A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560030



Internal ID16000753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101805189..101901440hg38UCSC Ensembl
Innerchr12:102198967..102295218hg19UCSC Ensembl
Innerchr12:100723098..100819349hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3896252
hg1996252
hg1896252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801783
Samples
Known GenesDRAM1, GNPTAB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560030
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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