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dbVar

Database of genomic structural variation

nsv5540543

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: 108 SVs from 24 studies. See in: genome view

Submitted genomic23,743,134-23,743,174

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5540543	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	23,743,134	23,743,174
nsv5540543	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	23,782,753	23,782,793

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16994543	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16994543	Submitted genomic		NC_000007.14:g.237 43134_23743174ins3 37	GRCh38 (hg38)		NC_000007.14	Chr7	23,743,134	23,743,174
nssv16994543	Remapped	Perfect	NC_000007.13:g.237 82753_23782793ins3 37	GRCh37.p13	First Pass	NC_000007.13	Chr7	23,782,753	23,782,793

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)
nssv16994543	0.012	76	6398

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