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dbVar

Database of genomic structural variation

nsv438213

Organism: Homo sapiens

Study:nstd20 (McCarroll et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI34 (hg16)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:4,687

Publication(s):McCarroll et al. 2006

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: 110 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):56,926,026-56,930,712

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv438213	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	56,926,026	56,930,712
nsv438213	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	57,319,810	57,324,496
nsv438213	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000012.8	Chr12	55,606,077	55,610,763

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv470451	copy number loss	NA18503	SNP array	SNP genotyping analysis	30
nssv470453	copy number loss	NA19103	SNP array	SNP genotyping analysis	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv470451	Remapped	Perfect	NC_000012.12:g.(?_ 56926026)_(5693071 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	56,926,026	56,930,712
nssv470453	Remapped	Perfect	NC_000012.12:g.(?_ 56926026)_(5693071 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	56,926,026	56,930,712
nssv470451	Remapped	Perfect	NC_000012.11:g.(?_ 57319810)_(5732449 6_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	57,319,810	57,324,496
nssv470453	Remapped	Perfect	NC_000012.11:g.(?_ 57319810)_(5732449 6_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	57,319,810	57,324,496
nssv470451	Submitted genomic		NC_000012.8:g.(?_5 5606077)_(55610763 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	55,606,077	55,610,763
nssv470453	Submitted genomic		NC_000012.8:g.(?_5 5606077)_(55610763 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	55,606,077	55,610,763

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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