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dbVar

Database of genomic structural variation

nsv5493068

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:569

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: 84 SVs from 21 studies. See in: genome view

Submitted genomic44,182,358-44,182,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5493068	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	44,182,358	44,182,926
nsv5493068	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	44,221,957	44,222,525

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16997336	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16997336	Submitted genomic		NC_000007.14:g.441 82358_44182926del	GRCh38 (hg38)		NC_000007.14	Chr7	44,182,358	44,182,926
nssv16997336	Remapped	Perfect	NC_000007.13:g.442 21957_44222525del	GRCh37.p13	First Pass	NC_000007.13	Chr7	44,221,957	44,222,525

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)
nssv16997336	<0.001	1	6404

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