A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462474



Internal ID15522539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:145688438..145764212hg38UCSC Ensembl
Innerchr5:145068001..145143775hg19UCSC Ensembl
Innerchr5:145048194..145123968hg18UCSC Ensembl
Innerchr5:145048194..145123968hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3875775
hg1975775
hg1875775
hg1775775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538629
SamplesHGDP01010
Known GenesPRELID2
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)nsv462474
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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