A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538709



Internal ID15163626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179508664hg38UCSC Ensembl
Innerchr5:178728830..178935665hg19UCSC Ensembl
Innerchr5:178661436..178868271hg18UCSC Ensembl
Innerchr5:178661436..178868271hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38206836
hg19206836
hg18206836
hg17206836
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462581
Supporting Variants
SamplesHGDP01228
Known GenesADAMTS2
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)nssv538709
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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