A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559329



Internal ID16000052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71748682..71886804hg38UCSC Ensembl
Innerchr12:72142462..72280584hg19UCSC Ensembl
Innerchr12:70428729..70566851hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38138123
hg19138123
hg18138123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798294
Samples
Known GenesMRS2P2, RAB21, TBC1D15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559329
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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