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dbVar

Database of genomic structural variation

nsv6307549

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:375

Description:nsv6145120 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: 214 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):75,546,556-75,546,930

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6307549	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	75,546,556	75,546,930
nsv6307549	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	73,542,637	73,543,011

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958214	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958214	Remapped	Perfect	NC_000017.11:g.755 46556_75546930del	GRCh38.p12	First Pass	NC_000017.11	Chr17	75,546,556	75,546,930
nssv17958214	Submitted genomic		NC_000017.10:g.735 42637_73543011del	GRCh37 (hg19)		NC_000017.10	Chr17	73,542,637	73,543,011

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)
nssv17958214	0.407	2606	6404

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