A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517296



Internal ID8411571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45854586..45965936hg38UCSC Ensembl
Innerchr20:44483225..44594575hg19UCSC Ensembl
Innerchr20:43916632..44027982hg18UCSC Ensembl
Innerchr20:43916632..44027982hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38111351
hg19111351
hg18111351
hg17111351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv661151, nssv688087, nssv692213, nssv698230, nssv674095, nssv653797, nssv662766
Samples
Known GenesACOT8, CTSA, NEURL2, PCIF1, PLTP, SPATA25, ZNF335, ZSWIM1, ZSWIM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517296
Frequency
Sample Size2026
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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