A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557392



Internal ID16344801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405722..9567639hg38UCSC Ensembl
Innerchr12:9558318..9720235hg19UCSC Ensembl
Innerchr12:9449585..9611502hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38161918
hg19161918
hg18161918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787522, nssv787521, nssv787523, nssv787519, nssv787518, nssv787525, nssv787524, nssv787520, nssv787526
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557392
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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