Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6935670

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:57

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: 94 SVs from 26 studies. See in: genome view

Submitted genomic120,024,973-120,025,029

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6935670	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	120,024,973	120,025,029
nsv6935670	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	120,462,777	120,462,833

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18593072	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
nssv18593072	Submitted genomic		NC_000012.12:g.120 024973_120025029du p	GRCh38 (hg38)		NC_000012.12	Chr12	120,024,973	120,025,029
nssv18593072	Remapped	Perfect	NC_000012.11:g.120 462777_120462833du p	GRCh37.p13	First Pass	NC_000012.11	Chr12	120,462,777	120,462,833

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)
nssv18593072	3.7e-05	8	213352

You are here: NCBI