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dbVar

Database of genomic structural variation

nsv6933647

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:38

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

Submitted genomic53,333,846-53,333,883

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6933647	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	53,333,846	53,333,883
nsv6933647	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	53,727,630	53,727,667

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18361162	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
nssv18361162	Submitted genomic		NC_000012.12:g.533 33846_53333883del	GRCh38 (hg38)		NC_000012.12	Chr12	53,333,846	53,333,883
nssv18361162	Remapped	Perfect	NC_000012.11:g.537 27630_53727667del	GRCh37.p13	First Pass	NC_000012.11	Chr12	53,727,630	53,727,667

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)
nssv18361162	0.004	973	241262

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