A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560064



Internal ID16347473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247203..106248444hg38UCSC Ensembl
Innerchr12:106640981..106642222hg19UCSC Ensembl
Innerchr12:105165111..105166352hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381242
hg191242
hg181242
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2844n54
Supporting Variantsnssv801853, nssv801851, nssv801845, nssv801844, nssv801842, nssv801837, nssv801846, nssv801838, nssv801852, nssv801854, nssv801840, nssv801847, nssv801841, nssv801839, nssv801848, nssv801849, nssv801850, nssv801836, nssv801843
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560064
Frequency
Sample Size17421
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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