A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647086



Internal ID18598681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115701027..115795583hg38UCSC Ensembl
Innerchr5:115036724..115131280hg19UCSC Ensembl
Innerchr5:115064623..115159179hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3894557
hg1994557
hg1894557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021139
Supporting Variants
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)nssv3647086
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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