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dbVar

Database of genomic structural variation

nsv5385938

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:417

Description:nsv4976764 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: 149 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):80,482,361-80,482,777

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5385938	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	80,482,361	80,482,777
nsv5385938	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	82,242,117	82,242,533

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16880931	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16880931	Remapped	Perfect	NC_000010.11:g.804 82361_80482777del	GRCh38.p12	First Pass	NC_000010.11	Chr10	80,482,361	80,482,777
nssv16880931	Submitted genomic		NC_000010.10:g.822 42117_82242533del	GRCh37 (hg19)		NC_000010.10	Chr10	82,242,117	82,242,533

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)
nssv16880931	0.032	552	17312

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