Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv470555

Organism: Homo sapiens

Study:nstd30 (Jakobsson et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:134,589

Publication(s):Jakobsson 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: 637 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):61,805,631-61,940,219

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv470555	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	61,805,631	61,940,219
nsv470555	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	60,380,687	60,515,275
nsv470555	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000020.9	Chr20	59,814,082	59,948,670

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity	Other Calls in this Sample and Study
nssv547383	copy number loss	HGDP00546	SNP array	SNP genotyping analysis	1	Heterozygous	52
nssv547382	copy number loss	HGDP00543	SNP array	SNP genotyping analysis	1	Heterozygous	40

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv547383	Remapped	Pass	NT_187623.1:g.(?_1 )_(53871_?)del	GRCh38.p12	Second Pass	NT_187623.1	Chr20\|NT_1 87623.1	1	53,871
nssv547382	Remapped	Perfect	NC_000020.11:g.(?_ 61805631)_(6194021 9_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	61,805,631	61,940,219
nssv547383	Remapped	Perfect	NC_000020.11:g.(?_ 61873619)_(6194021 9_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	61,873,619	61,940,219
nssv547382	Remapped	Perfect	NC_000020.10:g.(?_ 60380687)_(6051527 5_?)del	GRCh37.p13	First Pass	NC_000020.10	Chr20	60,380,687	60,515,275
nssv547383	Remapped	Perfect	NC_000020.10:g.(?_ 60448675)_(6051527 5_?)del	GRCh37.p13	First Pass	NC_000020.10	Chr20	60,448,675	60,515,275
nssv547382	Submitted genomic		NC_000020.9:g.(?_5 9814082)_(59948670 _?)del	NCBI36 (hg18)		NC_000020.9	Chr20	59,814,082	59,948,670
nssv547383	Submitted genomic		NC_000020.9:g.(?_5 9882070)_(59948670 _?)del	NCBI36 (hg18)		NC_000020.9	Chr20	59,882,070	59,948,670

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

You are here: NCBI