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dbVar

Database of genomic structural variation

nsv6294997

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:nsv5406654 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: 98 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):210,566,698-210,566,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6294997	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	210,566,698	210,566,749
nsv6294997	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	211,431,422	211,431,473

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17663639	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17663639	Remapped	Perfect	NC_000002.12:g.210 566698_210566749in s?	GRCh38.p12	First Pass	NC_000002.12	Chr2	210,566,698	210,566,749
nssv17663639	Submitted genomic		NC_000002.11:g.211 431422_211431473in s?	GRCh37 (hg19)		NC_000002.11	Chr2	211,431,422	211,431,473

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)
nssv17663639	0.044	280	6404

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