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dbVar

Database of genomic structural variation

nsv1069

Organism: Homo sapiens

Study:nstd2 (Kidd et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:338,153

Publication(s):Kidd et al. 2008

Links to Other Resources

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: 1705 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):62,731,774-63,069,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv1069	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	62,731,774	63,069,926
nsv1069	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	63,305,907	63,644,059
nsv1069	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000013.9	Chr13	62,203,908	62,542,060

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv9995	deletion	NA18956	Sequencing	Paired-end mapping	905
nssv9135	deletion	NA12156	Sequencing	Paired-end mapping	3,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv9995	Remapped	Perfect	NC_000013.11:g.(62 731774_?)_(?_63069 926)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	62,731,774	63,069,926
nssv9135	Remapped	Perfect	NC_000013.11:g.(62 817539_?)_(?_62862 472)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	62,817,539	62,862,472
nssv9995	Remapped	Perfect	NC_000013.10:g.(63 305907_?)_(?_63644 059)del	GRCh37.p13	First Pass	NC_000013.10	Chr13	63,305,907	63,644,059
nssv9135	Remapped	Perfect	NC_000013.10:g.(63 391672_?)_(?_63436 605)del	GRCh37.p13	First Pass	NC_000013.10	Chr13	63,391,672	63,436,605
nssv9995	Submitted genomic		NC_000013.9:g.(622 03908_?)_(?_625420 60)del318863	NCBI35 (hg17)		NC_000013.9	Chr13	62,203,908	62,542,060
nssv9135	Submitted genomic		NC_000013.9:g.(622 89673_?)_(?_623346 06)del5498	NCBI35 (hg17)		NC_000013.9	Chr13	62,289,673	62,334,606

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv9995	3	NA18956	Multiple complete digestion	MCD analysis	Pass
nssv9995	6	NA18956	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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