A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462126



Internal ID15175505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42728729..43237086hg38UCSC Ensembl
Innerchr5:42728831..43237188hg19UCSC Ensembl
Innerchr5:42764588..43272945hg18UCSC Ensembl
Innerchr5:42764588..43272945hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38508358
hg19508358
hg18508358
hg17508358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538373
Samples1788485590_A
Known GenesANXA2R, CCDC152, FLJ32255, LOC100132356, LOC100506639, LOC153684, LOC648987, NIM1, SEPP1, ZNF131
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)nsv462126
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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