A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559466



Internal ID16346875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81147286..81265538hg38UCSC Ensembl
Innerchr12:81541065..81659317hg19UCSC Ensembl
Innerchr12:80065196..80183448hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38118253
hg19118253
hg18118253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798920
Samples
Known GenesACSS3, MIR4699, PPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559466
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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