A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560069



Internal ID16347478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247307..106248392hg38UCSC Ensembl
Innerchr12:106641085..106642170hg19UCSC Ensembl
Innerchr12:105165215..105166300hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381086
hg191086
hg181086
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2844n54
Supporting Variantsnssv801869, nssv801868
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560069
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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