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dbVar

Database of genomic structural variation

nsv5458157

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:3,052

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: 221 SVs from 36 studies. See in: genome view

Submitted genomic15,227,866-15,230,917

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5458157	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	15,227,866	15,230,917
nsv5458157	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	15,227,975	15,231,026

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16962716	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16962716	Submitted genomic		NC_000005.10:g.152 27866_15230917del	GRCh38 (hg38)		NC_000005.10	Chr5	15,227,866	15,230,917
nssv16962716	Remapped	Perfect	NC_000005.9:g.1522 7975_15231026del	GRCh37.p13	First Pass	NC_000005.9	Chr5	15,227,975	15,231,026

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)
nssv16962716	0.012	76	6404

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