A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556464



Internal ID15997187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118076983..118161527hg38UCSC Ensembl
Innerchr11:117947698..118032242hg19UCSC Ensembl
Innerchr11:117452908..117537452hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3884545
hg1984545
hg1884545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174957
SamplesHGDP00244
Known GenesSCN4B, TMPRSS4, TMPRSS4-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556464
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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