A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560495



Internal ID16347904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123528427..123532914hg38UCSC Ensembl
Innerchr12:124012974..124017461hg19UCSC Ensembl
Innerchr12:122578927..122583414hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384488
hg194488
hg184488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803652
Samples
Known GenesRILPL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560495
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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