A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030516



Internal ID19119735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114645550..114715739hg38UCSC Ensembl
Innerchr5:113981247..114051436hg19UCSC Ensembl
Innerchr5:114009146..114079335hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3870190
hg1970190
hg1870190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647078
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)nsv1030516
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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