A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600245



Internal ID16387654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:165901416..166005606hg38UCSC Ensembl
Innerchr5:165328421..165432611hg19UCSC Ensembl
Innerchr5:165260999..165365189hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38104191
hg19104191
hg18104191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045248
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600245
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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