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dbVar

Database of genomic structural variation

nsv3317521

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:6,169

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: 497 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):8,009,428-8,015,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317521	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	8,009,428	8,015,596
nsv3317521	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	8,009,428	8,015,596

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468437	copy number loss	M2152	SNP array	SNP genotyping analysis	13
nssv14469639	copy number loss	M2255	SNP array	SNP genotyping analysis	20
nssv14470438	copy number loss	M2340	SNP array	SNP genotyping analysis	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468437	Remapped	Perfect	NC_000009.12:g.(?_ 8009428)_(8015596_ ?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	8,009,428	8,015,596
nssv14469639	Remapped	Perfect	NC_000009.12:g.(?_ 8009428)_(8015596_ ?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	8,009,428	8,015,596
nssv14470438	Remapped	Perfect	NC_000009.12:g.(?_ 8009428)_(8015596_ ?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	8,009,428	8,015,596
nssv14468437	Submitted genomic		NC_000009.11:g.(?_ 8009428)_(8015596_ ?)del	GRCh37 (hg19)		NC_000009.11	Chr9	8,009,428	8,015,596
nssv14469639	Submitted genomic		NC_000009.11:g.(?_ 8009428)_(8015596_ ?)del	GRCh37 (hg19)		NC_000009.11	Chr9	8,009,428	8,015,596
nssv14470438	Submitted genomic		NC_000009.11:g.(?_ 8009428)_(8015596_ ?)del	GRCh37 (hg19)		NC_000009.11	Chr9	8,009,428	8,015,596

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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