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dbVar

Database of genomic structural variation

nsv6126990

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:144

Description:nsv5534984 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: 173 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):147,952,170-147,952,313

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6126990	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	147,952,170	147,952,313
nsv6126990	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	147,649,262	147,649,405

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17961853	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17961853	Remapped	Perfect	NC_000007.14:g.147 952170_147952313in s?	GRCh38.p12	First Pass	NC_000007.14	Chr7	147,952,170	147,952,313
nssv17961853	Submitted genomic		NC_000007.13:g.147 649262_147649405in s?	GRCh37 (hg19)		NC_000007.13	Chr7	147,649,262	147,649,405

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)
nssv17961853	0.172	860	4996

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