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dbVar

Database of genomic structural variation

nsv3317169

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:89,340

Publication(s):Frenkel et al. 2019

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: 1662 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):46,382,326-46,471,665

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317169	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nsv3317169	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	46,416,238	46,505,577

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467955	copy number loss	M2121	SNP array	SNP genotyping analysis	17
nssv14467972	copy number loss	M2122	SNP array	SNP genotyping analysis	19
nssv14467989	copy number loss	M2124	SNP array	SNP genotyping analysis	13
nssv14468007	copy number loss	M2125	SNP array	SNP genotyping analysis	24
nssv14468043	copy number loss	M2127	SNP array	SNP genotyping analysis	59
nssv14469673	copy number loss	M2258	SNP array	SNP genotyping analysis	31
nssv14470382	copy number loss	M2337	SNP array	SNP genotyping analysis	36

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467955	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14467972	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14467989	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14468007	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14468043	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14469673	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14470382	Remapped	Perfect	NC_000016.10:g.(?_ 46382326)_(4647166 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,382,326	46,471,665
nssv14467955	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577
nssv14467972	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577
nssv14467989	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577
nssv14468007	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577
nssv14468043	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577
nssv14469673	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577
nssv14470382	Submitted genomic		NC_000016.9:g.(?_4 6416238)_(46505577 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	46,416,238	46,505,577

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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