A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557273



Internal ID15997996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7621432..7731755hg38UCSC Ensembl
Innerchr12:7774028..7884351hg19UCSC Ensembl
Innerchr12:7665295..7775618hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38110324
hg19110324
hg18110324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787268
Samples
Known GenesAPOBEC1, CLEC4C, DPPA3, GDF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557273
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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