A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560078



Internal ID16347487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247520..106248392hg38UCSC Ensembl
Innerchr12:106641298..106642170hg19UCSC Ensembl
Innerchr12:105165428..105166300hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38873
hg19873
hg18873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2849n54
Supporting Variantsnssv801882, nssv801883
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560078
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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