A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459068



Internal ID15519133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62444168..62577283hg38UCSC Ensembl
Innerchr20:61019224..61174490hg19UCSC Ensembl
Innerchr20:60452619..60584935hg18UCSC Ensembl
Innerchr20:60452619..60584935hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38133116
hg19155267
hg18132317
hg17132317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535907
SamplesHGDP01181
Known GenesC20orf166, C20orf166-AS1, GATA5, MIR1-1, MIR133A2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv459068
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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