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dbVar

Database of genomic structural variation

nsv5542538

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:41

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: 142 SVs from 19 studies. See in: genome view

Submitted genomic77,000,382-77,000,422

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5542538	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	77,000,382	77,000,422
nsv5542538	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	77,912,618	77,912,658

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17012265	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17012265	Submitted genomic		NC_000008.11:g.770 00382_77000422ins1 09	GRCh38 (hg38)		NC_000008.11	Chr8	77,000,382	77,000,422
nssv17012265	Remapped	Perfect	NC_000008.10:g.779 12618_77912658ins1 09	GRCh37.p13	First Pass	NC_000008.10	Chr8	77,912,618	77,912,658

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)
nssv17012265	0.096	532	5526

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