A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536414



Internal ID15505411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142214630..142240996hg38UCSC Ensembl
Innerchr2:142972199..142998565hg19UCSC Ensembl
Innerchr2:142688669..142715035hg18UCSC Ensembl
Innerchr2:142805931..142832297hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3826367
hg1926367
hg1826367
hg1726367
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459696
Supporting Variants
SamplesHGDP00129
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)nssv536414
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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