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dbVar

Database of genomic structural variation

nsv6128431

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:448

Description:nsv5525195 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: 93 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):49,821,777-49,822,224

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6128431	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	49,821,777	49,822,224
nsv6128431	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	50,325,034	50,325,481

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959359	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959359	Remapped	Perfect	NC_000019.10:g.498 21777_49822224del	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,821,777	49,822,224
nssv17959359	Submitted genomic		NC_000019.9:g.5032 5034_50325481del	GRCh37 (hg19)		NC_000019.9	Chr19	50,325,034	50,325,481

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)
nssv17959359	0.012	80	6404

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