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

dbVar

Database of genomic structural variation

nsv438244

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:46,385

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: 513 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):131,415,578-131,461,962

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv438244	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	131,415,578	131,461,962
nsv438244	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	131,900,123	131,946,507
nsv438244	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000012.8	Chr12	130,253,222	130,299,606

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv470565	copy number loss	NA19204	SNP array	SNP genotyping analysis	11
nssv470566	copy number loss	NA19205	SNP array	SNP genotyping analysis	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv470565	Remapped	Perfect	NC_000012.12:g.(?_ 131415578)_(131461 962_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	131,415,578	131,461,962
nssv470566	Remapped	Perfect	NC_000012.12:g.(?_ 131415578)_(131461 962_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	131,415,578	131,461,962
nssv470565	Remapped	Perfect	NC_000012.11:g.(?_ 131900123)_(131946 507_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	131,900,123	131,946,507
nssv470566	Remapped	Perfect	NC_000012.11:g.(?_ 131900123)_(131946 507_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	131,900,123	131,946,507
nssv470565	Submitted genomic		NC_000012.8:g.(?_1 30253222)_(1302996 06_?)del	NCBI34 (hg16)		NC_000012.8	Chr12	130,253,222	130,299,606
nssv470566	Submitted genomic		NC_000012.8:g.(?_1 30253222)_(1302996 06_?)del	NCBI34 (hg16)		NC_000012.8	Chr12	130,253,222	130,299,606

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