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dbVar

Database of genomic structural variation

nsv1014782

Organism: Homo sapiens

Study:nstd100 (Coe et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:122,817

Publication(s):Coe 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: 746 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):130,044,004-130,166,820

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv1014782	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nsv1014782	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nsv1014782	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	131,245,537	131,368,353

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv3603886	copy number gain	SNP array	Probe signal intensity
nssv3603887	copy number gain	SNP array	Probe signal intensity
nssv3603888	copy number gain	SNP array	Probe signal intensity
nssv3603889	copy number gain	SNP array	Probe signal intensity
nssv3734353	copy number gain	SNP array	Probe signal intensity
nssv3734354	copy number gain	SNP array	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv3603886	Remapped	Perfect	NC_000003.12:g.(?_ 130044004)_(130166 820_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nssv3603887	Remapped	Perfect	NC_000003.12:g.(?_ 130044004)_(130166 820_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nssv3603888	Remapped	Perfect	NC_000003.12:g.(?_ 130044004)_(130166 820_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nssv3603889	Remapped	Perfect	NC_000003.12:g.(?_ 130044004)_(130166 820_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nssv3734353	Remapped	Perfect	NC_000003.12:g.(?_ 130044004)_(130166 820_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nssv3734354	Remapped	Perfect	NC_000003.12:g.(?_ 130044004)_(130166 820_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,004	130,166,820
nssv3603886	Remapped	Perfect	NC_000003.11:g.(?_ 129762847)_(129885 663_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nssv3603887	Remapped	Perfect	NC_000003.11:g.(?_ 129762847)_(129885 663_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nssv3603888	Remapped	Perfect	NC_000003.11:g.(?_ 129762847)_(129885 663_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nssv3603889	Remapped	Perfect	NC_000003.11:g.(?_ 129762847)_(129885 663_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nssv3734353	Remapped	Perfect	NC_000003.11:g.(?_ 129762847)_(129885 663_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nssv3734354	Remapped	Perfect	NC_000003.11:g.(?_ 129762847)_(129885 663_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,762,847	129,885,663
nssv3603886	Submitted genomic		NC_000003.10:g.(?_ 131245537)_(131368 353_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,245,537	131,368,353
nssv3603887	Submitted genomic		NC_000003.10:g.(?_ 131245537)_(131368 353_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,245,537	131,368,353
nssv3603888	Submitted genomic		NC_000003.10:g.(?_ 131245537)_(131368 353_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,245,537	131,368,353
nssv3603889	Submitted genomic		NC_000003.10:g.(?_ 131245537)_(131368 353_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,245,537	131,368,353
nssv3734353	Submitted genomic		NC_000003.10:g.(?_ 131245537)_(131368 353_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,245,537	131,368,353
nssv3734354	Submitted genomic		NC_000003.10:g.(?_ 131245537)_(131368 353_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	131,245,537	131,368,353

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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