A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557389



Internal ID16344798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405059..9561734hg38UCSC Ensembl
Innerchr12:9557655..9714330hg19UCSC Ensembl
Innerchr12:9448922..9605597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38156676
hg19156676
hg18156676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787511, nssv787512
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557389
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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