A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462538



Internal ID15522603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175848482..175884354hg38UCSC Ensembl
Innerchr5:175275485..175311357hg19UCSC Ensembl
Innerchr5:175208091..175243963hg18UCSC Ensembl
Innerchr5:175208091..175243963hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3835873
hg1935873
hg1835873
hg1735873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538675
SamplesHGDP00815
Known GenesCPLX2
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)nsv462538
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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