A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457887



Internal ID15517952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66414797..66522389hg38UCSC Ensembl
Innerchr17:64410915..64518507hg19UCSC Ensembl
Innerchr17:61841377..61948969hg18UCSC Ensembl
Innerchr17:61841377..61948969hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38107593
hg19107593
hg18107593
hg17107593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534986
Samples1782681117_A
Known GenesPRKCA
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)nsv457887
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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