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dbVar

Database of genomic structural variation

nsv5465862

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:315

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: 158 SVs from 49 studies. See in: genome view

Submitted genomic12,242,085-12,242,399

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5465862	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	12,242,085	12,242,399
nsv5465862	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	12,281,711	12,282,025

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16993036	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16993036	Submitted genomic		NC_000007.14:g.122 42085_12242399del	GRCh38 (hg38)		NC_000007.14	Chr7	12,242,085	12,242,399
nssv16993036	Remapped	Perfect	NC_000007.13:g.122 81711_12282025del	GRCh37.p13	First Pass	NC_000007.13	Chr7	12,281,711	12,282,025

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)
nssv16993036	0.603	3861	6404

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