A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1027497



Internal ID16321453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23449603..23484263hg38UCSC Ensembl
Innerchr5:23449712..23484372hg19UCSC Ensembl
Innerchr5:23485469..23520129hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3834661
hg1934661
hg1834661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597543
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)nssv1027497
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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