A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537344



Internal ID15159447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127667659..127702011hg38UCSC Ensembl
Innerchr3:127386502..127420854hg19UCSC Ensembl
Innerchr3:128869192..128903544hg18UCSC Ensembl
Innerchr3:128869200..128903552hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3834353
hg1934353
hg1834353
hg1734353
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460848
Supporting Variants
SamplesHGDP00402
Known GenesABTB1, MGLL, PODXL2
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)nssv537344
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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