A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3951986



Internal ID21372055
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15177843
SamplesHG002
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3951986
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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