A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557379



Internal ID16344788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9403438..9577831hg38UCSC Ensembl
Innerchr12:9556034..9730427hg19UCSC Ensembl
Innerchr12:9447301..9621694hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38174394
hg19174394
hg18174394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787499
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557379
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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