A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805470



Internal ID15752740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132148365..132150976hg38UCSC Ensembl
Innerchr12:132632910..132635521hg19UCSC Ensembl
Innerchr12:131198863..131201474hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382612
hg192612
hg182612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560949
Supporting Variants
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805470
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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