A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188043



Internal ID21326853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232981166..232981166hg38UCSC Ensembl
chr2:233845876..233845876hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950943
Supporting Variants
SamplesHG002
Known GenesNGEF
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188043
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer