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dbVar

Database of genomic structural variation

nsv6130409

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:53

Description:nsv5547647 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: 221 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):131,917,275-131,917,327

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130409	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	131,917,275	131,917,327
nsv6130409	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	132,401,820	132,401,872

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17962574	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17962574	Remapped	Perfect	NC_000012.12:g.131 917275_131917327in s?	GRCh38.p12	First Pass	NC_000012.12	Chr12	131,917,275	131,917,327
nssv17962574	Submitted genomic		NC_000012.11:g.132 401820_132401872in s?	GRCh37 (hg19)		NC_000012.11	Chr12	132,401,820	132,401,872

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)
nssv17962574	0.077	485	6306

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