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

dbVar

Database of genomic structural variation

nsv6682014

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:25,832

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: 260 SVs from 59 studies. See in: genome view

Submitted genomic187,344,377-187,370,208

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6682014	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	187,344,377	187,370,208
nsv6682014	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	188,209,104	188,234,935

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18447635	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
nssv18447635	Submitted genomic		NC_000002.12:g.187 344377_187370208de l	GRCh38 (hg38)		NC_000002.12	Chr2	187,344,377	187,370,208
nssv18447635	Remapped	Perfect	NC_000002.11:g.188 209104_188234935de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	188,209,104	188,234,935

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)
nssv18447635	4e-06	1	273574

You are here: NCBI