A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15177843



Internal ID21316639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239231631..239231771hg38UCSC Ensembl
chr2:240153327..240153467hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951986
Supporting Variants
SamplesHG002
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15177843
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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