A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536589



Internal ID15506329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168405357..168441984hg38UCSC Ensembl
Innerchr2:169261867..169298494hg19UCSC Ensembl
Innerchr2:168970113..169006740hg18UCSC Ensembl
Innerchr2:169087374..169124001hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3836628
hg1936628
hg1836628
hg1736628
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459942
Supporting Variants
SamplesHGDP00463
Known Genes
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)nssv536589
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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