A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702328



Internal ID15092294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76114686..76234669hg38UCSC Ensembl
Innerchr5:75410511..75530494hg19UCSC Ensembl
Innerchr5:75446267..75566250hg18UCSC Ensembl
Innerchr5:75446267..75566250hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38119984
hg19119984
hg18119984
hg17119984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526084
Supporting Variants
Samples
Known GenesSV2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702328
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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