A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584062



Internal ID16371471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:189407469..189511767hg38UCSC Ensembl
Innerchr2:190272195..190376493hg19UCSC Ensembl
Innerchr2:189980440..190084738hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38104299
hg19104299
hg18104299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv928429
Samples
Known GenesWDR75
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584062
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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