A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581114



Internal ID16021837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18200727..18615490hg38UCSC Ensembl
Innerchr2:18381993..18796756hg19UCSC Ensembl
Innerchr2:18245474..18660237hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38414764
hg19414764
hg18414764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904169
Samples
Known GenesNT5C1B, NT5C1B-RDH14, RDH14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581114
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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