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dbVar

Database of genomic structural variation

nsv5391760

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:769

Description:nsv4992112 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 143 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):67,112,459-67,113,227

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5391760	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	67,112,459	67,113,227
nsv5391760	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	67,404,797	67,405,565

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16888030	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16888030	Remapped	Perfect	NC_000015.10:g.671 12459_67113227del	GRCh38.p12	First Pass	NC_000015.10	Chr15	67,112,459	67,113,227
nssv16888030	Submitted genomic		NC_000015.9:g.6740 4797_67405565del	GRCh37 (hg19)		NC_000015.9	Chr15	67,404,797	67,405,565

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16888030	0.301	8793	29246

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