A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592047



Internal ID16032770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151792469..151836961hg38UCSC Ensembl
Innerchr3:151510257..151554749hg19UCSC Ensembl
Innerchr3:152992947..153037439hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3844493
hg1944493
hg1844493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8653n54
Supporting Variantsnssv1151799
SamplesNINDS_268
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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