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dbVar

Database of genomic structural variation

nsv6307951

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:6,857

Description:nsv6147333 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: 139 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):112,304,162-112,311,018

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6307951	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	112,304,162	112,311,018
nsv6307951	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	113,225,318	113,232,174

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17667387	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17667387	Remapped	Perfect	NC_000004.12:g.112 304162_112311018de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	112,304,162	112,311,018
nssv17667387	Submitted genomic		NC_000004.11:g.113 225318_113232174de l	GRCh37 (hg19)		NC_000004.11	Chr4	113,225,318	113,232,174

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)
nssv17667387	0.017	110	6404

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