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dbVar

Database of genomic structural variation

nsv6124049

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:47

Description:nsv5541931 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: 124 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):55,874,000-55,874,046

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6124049	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	55,874,000	55,874,046
nsv6124049	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	56,101,135	56,101,181

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17670936	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17670936	Remapped	Perfect	NC_000002.12:g.558 74000_55874046ins?	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,874,000	55,874,046
nssv17670936	Submitted genomic		NC_000002.11:g.561 01135_56101181ins?	GRCh37 (hg19)		NC_000002.11	Chr2	56,101,135	56,101,181

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)
nssv17670936	0.769	4876	6338

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