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dbVar

Database of genomic structural variation

nsv6130210

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:36

Description:nsv5549742 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: 105 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):12,689,411-12,689,446

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130210	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	12,689,411	12,689,446
nsv6130210	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	12,783,268	12,783,303

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17964673	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17964673	Remapped	Perfect	NC_000016.10:g.126 89411_12689446ins?	GRCh38.p12	First Pass	NC_000016.10	Chr16	12,689,411	12,689,446
nssv17964673	Submitted genomic		NC_000016.9:g.1278 3268_12783303ins?	GRCh37 (hg19)		NC_000016.9	Chr16	12,783,268	12,783,303

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)
nssv17964673	0.147	913	6190

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