A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467498



Internal ID15180877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132900981..133134139hg38UCSC Ensembl
Innerchr10:134714485..134947643hg19UCSC Ensembl
Innerchr10:134564475..134797633hg18UCSC Ensembl
Innerchr10:134564475..134836524hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38233159
hg19233159
hg18233159
hg17272050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542777
SamplesHGDP00745
Known GenesGPR123, LOC399829, TTC40
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)nsv467498
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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