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dbVar

Database of genomic structural variation

nsv6295187

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:87

Description:nsv5469534 from Byrska-Bishop et. al 2021. 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: 67 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):175,681,327-175,681,413

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295187	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	175,681,327	175,681,413
nsv6295187	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	175,108,330	175,108,416

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17668559	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17668559	Remapped	Perfect	NC_000005.10:g.175 681327_175681413du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	175,681,327	175,681,413
nssv17668559	Submitted genomic		NC_000005.9:g.1751 08330_175108416dup	GRCh37 (hg19)		NC_000005.9	Chr5	175,108,330	175,108,416

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)
nssv17668559	0.524	3356	6404

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