A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592069



Internal ID16032792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151815333..151820251hg38UCSC Ensembl
Innerchr3:151533121..151538039hg19UCSC Ensembl
Innerchr3:153015811..153020729hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384919
hg194919
hg184919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv976844
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592069
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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