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dbVar

Database of genomic structural variation

nsv6292532

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5407215 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: 113 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):203,731,311-203,731,362

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6292532	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	203,731,311	203,731,362
nsv6292532	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	203,700,439	203,700,490

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17965901	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17965901	Remapped	Perfect	NC_000001.11:g.203 731311_203731362in s?	GRCh38.p12	First Pass	NC_000001.11	Chr1	203,731,311	203,731,362
nssv17965901	Submitted genomic		NC_000001.10:g.203 700439_203700490in s?	GRCh37 (hg19)		NC_000001.10	Chr1	203,700,439	203,700,490

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)
nssv17965901	0.5	3202	6404

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