A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv660129



Internal ID15396781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62312525..62429086hg38UCSC Ensembl
Innerchr20:60887581..61004142hg19UCSC Ensembl
Innerchr20:60320976..60437537hg18UCSC Ensembl
Innerchr20:60320976..60437537hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38116562
hg19116562
hg18116562
hg17116562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520024
Supporting Variants
Samples
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv660129
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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