A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458950



Internal ID15172329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23661790..23741355hg38UCSC Ensembl
Innerchr20:23642427..23721992hg19UCSC Ensembl
Innerchr20:23590427..23669992hg18UCSC Ensembl
Innerchr20:23590427..23669992hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3879566
hg1979566
hg1879566
hg1779566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535803
SamplesNINDS_73
Known GenesCST4
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)nsv458950
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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