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dbVar

Database of genomic structural variation

nsv6308613

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,971

Description:nsv6147277 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: 165 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):29,459,290-29,465,260

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308613	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	29,459,290	29,465,260
nsv6308613	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	29,950,197	29,956,167

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968248	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968248	Remapped	Perfect	NC_000019.10:g.294 59290_29465260del	GRCh38.p12	First Pass	NC_000019.10	Chr19	29,459,290	29,465,260
nssv17968248	Submitted genomic		NC_000019.9:g.2995 0197_29956167del	GRCh37 (hg19)		NC_000019.9	Chr19	29,950,197	29,956,167

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)
nssv17968248	0.516	3304	6404

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