A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176334



Internal ID15531610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121230451..121249371hg38UCSC Ensembl
Innerchr12:121668254..121687174hg19UCSC Ensembl
Innerchr12:120152637..120171557hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818921
hg1918921
hg1818921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560456
Supporting Variants
SamplesHGDP01174
Known GenesCAMKK2, P2RX4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176334
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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