A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538362



Internal ID15159378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32169441hg38UCSC Ensembl
Innerchr5:32107084..32169547hg19UCSC Ensembl
Innerchr5:32142841..32205304hg18UCSC Ensembl
Innerchr5:32142841..32205304hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3862464
hg1962464
hg1862464
hg1762464
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462110
Supporting Variants
SamplesHGDP00351
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)nssv538362
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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