A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584779



Internal ID16372188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239092694..239123654hg38UCSC Ensembl
Innerchr2:240014390..240045350hg19UCSC Ensembl
Innerchr2:239679327..239710287hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3830961
hg1930961
hg1830961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151182
SamplesNINDS_230
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584779
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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