A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592835



Internal ID16033558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191347603..191355917hg38UCSC Ensembl
Innerchr3:191065392..191073706hg19UCSC Ensembl
Innerchr3:192548086..192556400hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388315
hg198315
hg188315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8794n54
Supporting Variantsnssv983953, nssv983955, nssv983954, nssv983958, nssv983956, nssv983957
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592835
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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