A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520308



Internal ID15447601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123906787..123939593hg38UCSC Ensembl
Innerchr3:123625634..123658440hg19UCSC Ensembl
Innerchr3:125108324..125141130hg18UCSC Ensembl
Innerchr3:125108324..125141130hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3832807
hg1932807
hg1832807
hg1732807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688798, nssv662750, nssv672666, nssv680069
Samples
Known GenesCCDC14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520308
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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