A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457880



Internal ID15517945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66129213..66173677hg38UCSC Ensembl
Innerchr17:64125331..64169795hg19UCSC Ensembl
Innerchr17:61555793..61600257hg18UCSC Ensembl
Innerchr17:61555793..61600257hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3844465
hg1944465
hg1844465
hg1744465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534980
SamplesHGDP00007
Known GenesCEP112
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)nsv457880
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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