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dbVar

Database of genomic structural variation

nsv6127417

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:105

Description:nsv5542055 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: 206 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):145,232,849-145,232,953

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6127417	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	145,232,849	145,232,953
nsv6127417	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	148,193,186	148,193,290

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17651873	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17651873	Remapped	Perfect	NC_000001.11:g.145 232849_145232953in s?	GRCh38.p12	First Pass	NC_000001.11	Chr1	145,232,849	145,232,953
nssv17651873	Submitted genomic		NC_000001.10:g.148 193186_148193290in s?	GRCh37 (hg19)		NC_000001.10	Chr1	148,193,186	148,193,290

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)
nssv17651873	0.044	281	6400

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