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dbVar

Database of genomic structural variation

nsv4578235

Organism: Homo sapiens

Study:nstd179 (Bertuzzi et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:88

Publication(s):Bertuzzi et al. 2020

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: 299 SVs from 41 studies. See in: genome view

Submitted genomic123,911-123,998

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4578235	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	123,911	123,998
nsv4578235	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	173,910	173,997

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16091441	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091441	Submitted genomic		NC_000016.10:g.123 911_123998del	GRCh38 (hg38)		NC_000016.10	Chr16	123,911	123,998
nssv16091441	Remapped	Perfect	NC_000016.9:g.1739 10_173997del	GRCh37.p13	First Pass	NC_000016.9	Chr16	173,910	173,997

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)
nssv16091441	0.104	234	2248

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