A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559420



Internal ID16000143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:75025938..75085599hg38UCSC Ensembl
Innerchr12:75419718..75479379hg19UCSC Ensembl
Innerchr12:73705985..73765646hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3859662
hg1959662
hg1859662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798863
Samples
Known GenesKCNC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559420
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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