A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517702



Internal ID15098309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63540916..63581575hg38UCSC Ensembl
Innerchr20:62172269..62212928hg19UCSC Ensembl
Innerchr20:61642713..61683372hg18UCSC Ensembl
Innerchr20:61642713..61683372hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3840660
hg1940660
hg1840660
hg1740660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656214, nssv689400, nssv674935, nssv674687, nssv676895, nssv669602, nssv673999, nssv692973, nssv689511, nssv670615, nssv690997, nssv661844, nssv662149, nssv652901, nssv683287, nssv677152, nssv681599, nssv671230, nssv683345, nssv684028, nssv668209, nssv693500, nssv690914, nssv679472, nssv670009, nssv680089, nssv655307, nssv669156, nssv659432, nssv661470, nssv674168, nssv658211, nssv667468, nssv660130, nssv659166, nssv679024, nssv657050, nssv671375, nssv656461, nssv673310
Samples
Known GenesC20orf195, HELZ2, SRMS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517702
Frequency
Sample Size2026
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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