A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459084



Internal ID15172463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63738644..63789659hg38UCSC Ensembl
Innerchr20:62369997..62421012hg19UCSC Ensembl
Innerchr20:61840441..61891456hg18UCSC Ensembl
Innerchr20:61840441..61891456hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3851016
hg1951016
hg1851016
hg1751016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523n27
Supporting Variantsnssv535918
SamplesNINDS_119
Known GenesLIME1, SLC2A4RG, ZBTB46
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)nsv459084
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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