A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583145



Internal ID16023868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131413315..131491303hg38UCSC Ensembl
Innerchr2:132170888..132248876hg19UCSC Ensembl
Innerchr2:131887358..131965346hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3877989
hg1977989
hg1877989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151301
SamplesHGDP01087
Known GenesLOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583145
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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