A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612565



Internal ID16053288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140431882..140524741hg38UCSC Ensembl
Innerchr8:141441981..141534840hg19UCSC Ensembl
Innerchr8:141511163..141604022hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3892860
hg1992860
hg1892860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12367n54
Supporting Variantsnssv1124286
Samples
Known GenesCHRAC1, TRAPPC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612565
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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