A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787476



Internal ID16081432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9402779..9506145hg38UCSC Ensembl
Innerchr12:9555375..9658741hg19UCSC Ensembl
Innerchr12:9446642..9550008hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103367
hg19103367
hg18103367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557368
Supporting Variants
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787476
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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