A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560270



Internal ID16347679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113717856..113731787hg38UCSC Ensembl
Innerchr12:114155661..114169592hg19UCSC Ensembl
Innerchr12:112640044..112653975hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3813932
hg1913932
hg1813932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802731
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560270
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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