A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518757



Internal ID15099364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77716111..77773984hg38UCSC Ensembl
Innerchr4:78637265..78695138hg19UCSC Ensembl
Innerchr4:78856289..78914162hg18UCSC Ensembl
Innerchr4:78994444..79052317hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3857874
hg1957874
hg1857874
hg1757874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696205
Samples
Known GenesCNOT6L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518757
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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