A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559202



Internal ID16346611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64316939..64355592hg38UCSC Ensembl
Innerchr12:64710719..64749372hg19UCSC Ensembl
Innerchr12:62996986..63035639hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3838654
hg1938654
hg1838654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176414
Samples1780854459_A
Known GenesC12orf56
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559202
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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