A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801814



Internal ID16095770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106240944..106248392hg38UCSC Ensembl
Innerchr12:106634722..106642170hg19UCSC Ensembl
Innerchr12:105158852..105166300hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387449
hg197449
hg187449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560057
Supporting Variants
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801814
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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