A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459001



Internal ID15172380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49471461..49478053hg38UCSC Ensembl
Innerchr20:48087998..48094590hg19UCSC Ensembl
Innerchr20:47521405..47527997hg18UCSC Ensembl
Innerchr20:47521405..47527997hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg386593
hg196593
hg186593
hg176593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535847
SamplesHGDP00491
Known GenesKCNB1
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)nsv459001
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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