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dbVar

Database of genomic structural variation

nsv6755865

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:9,600

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: 297 SVs from 43 studies. See in: genome view

Submitted genomic184,811,501-184,821,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6755865	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	184,811,501	184,821,100
nsv6755865	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	185,732,655	185,742,254

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18493183	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
nssv18493183	Submitted genomic		NC_000004.12:g.184 811501_184821100de l	GRCh38 (hg38)		NC_000004.12	Chr4	184,811,501	184,821,100
nssv18493183	Remapped	Perfect	NC_000004.11:g.185 732655_185742254de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	185,732,655	185,742,254

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)
nssv18493183	0.002	583	253958

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