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dbVar

Database of genomic structural variation

nsv5544808

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: 102 SVs from 18 studies. See in: genome view

Submitted genomic32,243,430-32,243,430

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5544808	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	32,243,430	32,243,430
nsv5544808	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	30,570,449	30,570,449

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17712639	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17712639	Submitted genomic		NC_000017.11:g.322 43430_32243431ins1 48	GRCh38 (hg38)		NC_000017.11	Chr17	32,243,430	32,243,430
nssv17712639	Remapped	Perfect	NC_000017.10:g.305 70449_30570450ins1 48	GRCh37.p13	First Pass	NC_000017.10	Chr17	30,570,449	30,570,449

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)
nssv17712639	0.016	95	6018

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