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dbVar

Database of genomic structural variation

nsv6750923

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:480,229

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: 1417 SVs from 71 studies. See in: genome view

Submitted genomic176,272,550-176,752,778

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6750923	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	176,272,550	176,752,778
nsv6750923	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	177,193,701	177,673,932

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18685771	duplication	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
nssv18685771	Submitted genomic		NC_000004.12:g.176 272550_176752778du p	GRCh38 (hg38)		NC_000004.12	Chr4	176,272,550	176,752,778
nssv18685771	Remapped	Good	NC_000004.11:g.177 193701_177673932du p	GRCh37.p13	First Pass	NC_000004.11	Chr4	177,193,701	177,673,932

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)
nssv18685771	4e-06	1	274160

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