A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517296



Internal ID6014650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44483225..44594575hg19UCSC Ensembl
Innerchr20:43916632..44027982hg18UCSC Ensembl
Innerchr20:43916632..44027982hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv661151, nssv688087, nssv692213, nssv698230, nssv674095, nssv653797, nssv662766
Samples
Known GenesACOT8, C20orf165, CTSA, NEURL2, PCIF1, PLTP, ZNF335, ZSWIM1, ZSWIM3
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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