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dbVar

Database of genomic structural variation

nsv5553127

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Byrska-Bishop et al. 2022

Links to Other Resources

Overlapping Genes

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: 86 SVs from 27 studies. See in: genome view

Submitted genomic49,100,926-49,100,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5553127	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	49,100,926	49,100,926
nsv5553127	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	49,494,709	49,494,709

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17058234	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17058234	Submitted genomic		NC_000012.12:g.491 00926_49100927ins1 39	GRCh38 (hg38)		NC_000012.12	Chr12	49,100,926	49,100,926
nssv17058234	Remapped	Perfect	NC_000012.11:g.494 94709_49494710ins1 39	GRCh37.p13	First Pass	NC_000012.11	Chr12	49,494,709	49,494,709

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17058234	0.005	34	6402

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