A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176173



Internal ID15530444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137971737..138133487hg38UCSC Ensembl
Innerchr9:140866189..141027939hg19UCSC Ensembl
Innerchr9:139986010..140147760hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38161751
hg19161751
hg18161751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv616025
Supporting Variants
SamplesHGDP00938
Known GenesCACNA1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176173
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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