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dbVar

Database of genomic structural variation

nsv6929100

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:29

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: 207 SVs from 45 studies. See in: genome view

Submitted genomic27,620,695-27,620,723

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6929100	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	27,620,695	27,620,723
nsv6929100	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	27,773,628	27,773,656

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18359861	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
nssv18359861	Submitted genomic		NC_000012.12:g.276 20695_27620723del	GRCh38 (hg38)		NC_000012.12	Chr12	27,620,695	27,620,723
nssv18359861	Remapped	Perfect	NC_000012.11:g.277 73628_27773656del	GRCh37.p13	First Pass	NC_000012.11	Chr12	27,773,628	27,773,656

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)
nssv18359861	0.08	16882	212690

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