A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1045248



Internal ID15898434
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 StatusS
Merged Variantsnsv600245
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1045248
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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