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dbVar

Database of genomic structural variation

nsv6713734

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:44

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: 97 SVs from 24 studies. See in: genome view

Submitted genomic63,896,250-63,896,293

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6713734	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	63,896,250	63,896,293
nsv6713734	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	63,881,926	63,881,969

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18483746	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
nssv18483746	Submitted genomic		NC_000003.12:g.638 96250_63896293del	GRCh38 (hg38)		NC_000003.12	Chr3	63,896,250	63,896,293
nssv18483746	Remapped	Perfect	NC_000003.11:g.638 81926_63881969del	GRCh37.p13	First Pass	NC_000003.11	Chr3	63,881,926	63,881,969

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)
nssv18483746	0.08	20624	254466

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