A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560434



Internal ID16001157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120096343..120107914hg38UCSC Ensembl
Innerchr12:120534147..120545718hg19UCSC Ensembl
Innerchr12:119018530..119030101hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3811572
hg1911572
hg1811572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803394
Samples
Known GenesRAB35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560434
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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