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dbVar

Database of genomic structural variation

nsv6867476

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,668

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: 148 SVs from 31 studies. See in: genome view

Submitted genomic133,032,442-133,038,109

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6867476	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	133,032,442	133,038,109
nsv6867476	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	135,907,829	135,913,496

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18565115	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18565115	Submitted genomic		NC_000009.12:g.133 032442_133038109de l	GRCh38 (hg38)		NC_000009.12	Chr9	133,032,442	133,038,109
nssv18565115	Remapped	Perfect	NC_000009.11:g.135 907829_135913496de l	GRCh37.p13	First Pass	NC_000009.11	Chr9	135,907,829	135,913,496

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)
nssv18565115	0.001	381	275862

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