A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459079



Internal ID15519144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63522433..63566995hg38UCSC Ensembl
Innerchr20:62153786..62198348hg19UCSC Ensembl
Innerchr20:61624230..61668792hg18UCSC Ensembl
Innerchr20:61624230..61668792hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3844563
hg1944563
hg1844563
hg1744563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv521n27
Supporting Variantsnssv535914
SamplesHGDP00696
Known GenesC20orf195, HELZ2, PTK6, SRMS
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)nsv459079
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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