A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462582



Internal ID15175961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179509721hg38UCSC Ensembl
Innerchr5:178728830..178936722hg19UCSC Ensembl
Innerchr5:178661436..178869328hg18UCSC Ensembl
Innerchr5:178661436..178869328hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38207893
hg19207893
hg18207893
hg17207893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n27
Supporting Variantsnssv538710
SamplesHGDP01349
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)nsv462582
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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