A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612548



Internal ID16399957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139746713..139793689hg38UCSC Ensembl
Innerchr8:140758956..140805932hg19UCSC Ensembl
Innerchr8:140828138..140875114hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3846977
hg1946977
hg1846977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12362n54
Supporting Variantsnssv1156882
Samples1780862403_A
Known GenesTRAPPC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612548
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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