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nsv2781966

  • Variant Calls:4
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 124 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):226,938,581-226,938,581Question Mark
Overlapping variant regions from other studies: 124 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):226,938,581-226,938,581Question Mark
Overlapping variant regions from other studies: 118 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):227,457,781-227,457,781Question Mark
Overlapping variant regions from other studies: 118 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):227,457,781-227,457,781Question Mark
Overlapping variant regions from other studies: 59 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):97,023,711-97,023,711Question Mark
Overlapping variant regions from other studies: 59 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):97,023,711-97,023,711Question Mark
Overlapping variant regions from other studies: 55 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):97,653,768-97,653,768Question Mark
Overlapping variant regions from other studies: 55 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):97,653,768-97,653,768Question Mark
Overlapping variant regions from other studies: 127 SVs from 23 studies. See in: genome view    
Submitted genomic227,126,282-227,126,282Question Mark
Overlapping variant regions from other studies: 127 SVs from 23 studies. See in: genome view    
Submitted genomic227,126,282-227,126,282Question Mark
Overlapping variant regions from other studies: 121 SVs from 19 studies. See in: genome view    
Submitted genomic227,645,482-227,645,482Question Mark
Overlapping variant regions from other studies: 121 SVs from 19 studies. See in: genome view    
Submitted genomic227,645,482-227,645,482Question Mark
Overlapping variant regions from other studies: 59 SVs from 15 studies. See in: genome view    
Submitted genomic97,490,048-97,490,048Question Mark
Overlapping variant regions from other studies: 59 SVs from 15 studies. See in: genome view    
Submitted genomic97,490,048-97,490,048Question Mark
Overlapping variant regions from other studies: 55 SVs from 16 studies. See in: genome view    
Submitted genomic98,120,105-98,120,105Question Mark
Overlapping variant regions from other studies: 55 SVs from 16 studies. See in: genome view    
Submitted genomic98,120,105-98,120,105Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1226,938,581226,938,581+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1226,938,581226,938,581+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1227,457,781227,457,781+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1227,457,781227,457,781+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1497,023,71197,023,711+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1497,023,71197,023,711+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1497,653,76897,653,768+
nsv2781966RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1497,653,76897,653,768+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1227,126,282227,126,282+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1227,126,282227,126,282+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1227,645,482227,645,482+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1227,645,482227,645,482+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1497,490,04897,490,048+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1497,490,04897,490,048+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1498,120,10598,120,105+
nsv2781966Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1498,120,10598,120,105+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13660479interchromosomal translocationNIJ13SequencingSplit read and paired-end mappingSCV000320963nssv13660478, nssv13660480, nssv13660481
nssv13660480copy number gainNIJ13SequencingSplit read and paired-end mappingSCV000320963nssv13660478, nssv13660479, nssv13660481
nssv13660478interchromosomal translocationNIJ13SequencingSplit read and paired-end mappingSCV000320963nssv13660479, nssv13660480, nssv13660481
nssv13660481copy number gainNIJ13SequencingSplit read and paired-end mappingSCV000320963nssv13660478, nssv13660479, nssv13660480

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13660479RemappedPerfectGRCh38.p12First PassNC_000001.11Chr1226,938,581226,938,581+
nssv13660480RemappedPerfectNC_000001.11:g.226
938581dupNC_000001
.11:g.227457781dup		GRCh38.p12First PassNC_000001.11Chr1226,938,581226,938,581
nssv13660478RemappedPerfectGRCh38.p12First PassNC_000001.11Chr1227,457,781227,457,781+
nssv13660480RemappedPerfectNC_000001.11:g.226
938581dupNC_000001
.11:g.227457781dup		GRCh38.p12First PassNC_000001.11Chr1227,457,781227,457,781
nssv13660478RemappedPerfectGRCh38.p12First PassNC_000014.9Chr1497,023,71197,023,711+
nssv13660481RemappedPerfectNC_000014.9:g.9702
3711dupNC_000014.9
:g.97653768dup		GRCh38.p12First PassNC_000014.9Chr1497,023,71197,023,711
nssv13660479RemappedPerfectGRCh38.p12First PassNC_000014.9Chr1497,653,76897,653,768+
nssv13660481RemappedPerfectNC_000014.9:g.9702
3711dupNC_000014.9
:g.97653768dup		GRCh38.p12First PassNC_000014.9Chr1497,653,76897,653,768
nssv13660479Submitted genomicGRCh37 (hg19)NC_000001.10Chr1227,126,282227,126,282+
nssv13660480Submitted genomic[NC_000001.10:g.22
7126282dup];[NC_00
0001.10:g.22764548
2dup]		GRCh37 (hg19)NC_000001.10Chr1227,126,282227,126,282
nssv13660478Submitted genomicGRCh37 (hg19)NC_000001.10Chr1227,645,482227,645,482+
nssv13660480Submitted genomic[NC_000001.10:g.22
7126282dup];[NC_00
0001.10:g.22764548
2dup]		GRCh37 (hg19)NC_000001.10Chr1227,645,482227,645,482
nssv13660478Submitted genomicGRCh37 (hg19)NC_000014.8Chr1497,490,04897,490,048+
nssv13660481Submitted genomic[NC_000014.8:g.974
90048dup];[NC_0000
14.8:g.98120105dup
]		GRCh37 (hg19)NC_000014.8Chr1497,490,04897,490,048
nssv13660479Submitted genomicGRCh37 (hg19)NC_000014.8Chr1498,120,10598,120,105+
nssv13660481Submitted genomic[NC_000014.8:g.974
90048dup];[NC_0000
14.8:g.98120105dup
]		GRCh37 (hg19)NC_000014.8Chr1498,120,10598,120,105

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13660479NIJ13interchromosomal translocationSCV000320963Malenssv13660478, nssv13660480, nssv13660481
nssv13660480NIJ13GRCh37: [NC_000001.10:g.227126282dup];[NC_000001.10:g.227645482dup]copy number gainSCV000320963Malenssv13660478, nssv13660479, nssv13660481
nssv13660478NIJ13interchromosomal translocationSCV000320963Malenssv13660479, nssv13660480, nssv13660481
nssv13660481NIJ13GRCh37: [NC_000014.8:g.97490048dup];[NC_000014.8:g.98120105dup]copy number gainSCV000320963Malenssv13660478, nssv13660479, nssv13660480

No genotype data were submitted for this variant

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