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dbVar

Database of genomic structural variation

nsv5549431

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:42

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: 76 SVs from 14 studies. See in: genome view

Submitted genomic50,757,293-50,757,334

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5549431	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	50,757,293	50,757,334
nsv5549431	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	50,725,006	50,725,047

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16984954	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16984954	Submitted genomic		NC_000006.12:g.507 57293_50757334ins5 2	GRCh38 (hg38)		NC_000006.12	Chr6	50,757,293	50,757,334
nssv16984954	Remapped	Perfect	NC_000006.11:g.507 25006_50725047ins5 2	GRCh37.p13	First Pass	NC_000006.11	Chr6	50,725,006	50,725,047

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)
nssv16984954	0.001	7	6404

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