A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020292



Internal ID19109511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116848016..117013937hg38UCSC Ensembl
Innerchr5:116183712..116349633hg19UCSC Ensembl
Innerchr5:116211611..116377532hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38165922
hg19165922
hg18165922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647214
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020292
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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