A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176023



Internal ID15853693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130341310..130399802hg38UCSC Ensembl
Innerchr12:130825855..130884347hg19UCSC Ensembl
Innerchr12:129391808..129450300hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3858493
hg1958493
hg1858493
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560740
Supporting Variants
Samples1780854341_A
Known GenesPIWIL1, RIMBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176023
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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