A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461894



Internal ID15521959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:593968..685633hg38UCSC Ensembl
Innerchr5:594083..685748hg19UCSC Ensembl
Innerchr5:647083..738748hg18UCSC Ensembl
Innerchr5:647083..738748hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3891666
hg1991666
hg1891666
hg1791666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538220
SamplesNINDS_256
Known GenesCEP72, LOC100996325, TPPP
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)nsv461894
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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