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dbVar

Database of genomic structural variation

nsv6308113

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:8,384

Description:nsv6147313 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: 138 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):123,714,582-123,722,965

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308113	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	123,714,582	123,722,965
nsv6308113	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	124,635,737	124,644,120

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17667481	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17667481	Remapped	Perfect	NC_000004.12:g.123 714582_123722965de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	123,714,582	123,722,965
nssv17667481	Submitted genomic		NC_000004.11:g.124 635737_124644120de l	GRCh37 (hg19)		NC_000004.11	Chr4	124,635,737	124,644,120

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)
nssv17667481	0.04	253	6356

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