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dbVar

Database of genomic structural variation

nsv1113631

Organism: Homo sapiens

Study:nstd106 (Alsmadi et al. 2014)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:55

Publication(s):Alsmadi et al. 2014

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 96 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):34,003,036-34,003,090

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv1113631	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	34,003,036	34,003,090
nsv1113631	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	34,472,242	34,472,296

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv3971480	deletion	KWS2	Sequencing	Read depth and paired-end mapping	21,718
nssv3995601	deletion	KWS1	Sequencing	Read depth and paired-end mapping	22,470

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv3971480	Remapped	Perfect	NC_000014.9:g.(340 03036_?)_(?_340030 90)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	34,003,036	34,003,090
nssv3995601	Remapped	Perfect	NC_000014.9:g.(340 03036_?)_(?_340030 90)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	34,003,036	34,003,090
nssv3971480	Submitted genomic		NC_000014.8:g.(344 72242_?)_(?_344722 96)del	GRCh37 (hg19)		NC_000014.8	Chr14	34,472,242	34,472,296
nssv3995601	Submitted genomic		NC_000014.8:g.(344 72242_?)_(?_344722 96)del	GRCh37 (hg19)		NC_000014.8	Chr14	34,472,242	34,472,296

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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