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dbVar

Database of genomic structural variation

nsv6748031

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:6,100

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: 167 SVs from 39 studies. See in: genome view

Submitted genomic155,752,701-155,758,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6748031	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	155,752,701	155,758,800
nsv6748031	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	156,673,853	156,679,952

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18491161	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
nssv18491161	Submitted genomic		NC_000004.12:g.155 752701_155758800de l	GRCh38 (hg38)		NC_000004.12	Chr4	155,752,701	155,758,800
nssv18491161	Remapped	Perfect	NC_000004.11:g.156 673853_156679952de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	156,673,853	156,679,952

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)
nssv18491161	0.005	1215	250140

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