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dbVar

Database of genomic structural variation

nsv6308521

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:8,008

Description:nsv6147076 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: 217 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):82,125,272-82,133,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308521	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	82,125,272	82,133,279
nsv6308521	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	81,421,091	81,429,098

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17669017	mobile element deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17669017	Remapped	Perfect	NC_000005.10:g.821 25272_82133279del	GRCh38.p12	First Pass	NC_000005.10	Chr5	82,125,272	82,133,279
nssv17669017	Submitted genomic		NC_000005.9:g.8142 1091_81429098del	GRCh37 (hg19)		NC_000005.9	Chr5	81,421,091	81,429,098

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)
nssv17669017	0.459	2939	6404

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