A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462091



Internal ID15175470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32151013hg38UCSC Ensembl
Innerchr5:32107084..32151119hg19UCSC Ensembl
Innerchr5:32142841..32186876hg18UCSC Ensembl
Innerchr5:32142841..32186876hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3844036
hg1944036
hg1844036
hg1744036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv698n27
Supporting Variantsnssv538344
SamplesHGDP00001
Known GenesGOLPH3, PDZD2
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)nsv462091
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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