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dbVar

Database of genomic structural variation

nsv6308079

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:7,308

Description:nsv6147437 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: 128 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):60,774,121-60,781,428

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308079	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	60,774,121	60,781,428
nsv6308079	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	61,239,793	61,247,100

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17665198	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17665198	Remapped	Perfect	NC_000001.11:g.607 74121_60781428del	GRCh38.p12	First Pass	NC_000001.11	Chr1	60,774,121	60,781,428
nssv17665198	Submitted genomic		NC_000001.10:g.612 39793_61247100del	GRCh37 (hg19)		NC_000001.10	Chr1	61,239,793	61,247,100

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)
nssv17665198	0.071	440	6226

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