A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560493



Internal ID16001216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122982778..122995076hg38UCSC Ensembl
Innerchr12:123467325..123479623hg19UCSC Ensembl
Innerchr12:122033278..122045576hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812299
hg1912299
hg1812299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803650
Samples
Known GenesARL6IP4, PITPNM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560493
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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