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dbVar

Database of genomic structural variation

nsv6130861

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:nsv5559140 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: 633 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):19,223,390-19,223,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130861	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	19,223,390	19,223,441
nsv6130861	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	19,210,913	19,210,964

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17965762	line1 insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17965762	Remapped	Perfect	NC_000022.11:g.192 23390_19223441ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	19,223,390	19,223,441
nssv17965762	Submitted genomic		NC_000022.10:g.192 10913_19210964ins?	GRCh37 (hg19)		NC_000022.10	Chr22	19,210,913	19,210,964

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)
nssv17965762	0.04	248	6270

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