A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537077



Internal ID15511030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41918514..42139904hg38UCSC Ensembl
Innerchr3:41960006..42181396hg19UCSC Ensembl
Innerchr3:41935010..42156400hg18UCSC Ensembl
Innerchr3:41935010..42156400hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38221391
hg19221391
hg18221391
hg17221391
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460520
Supporting Variants
SamplesHGDP01340
Known GenesTRAK1, ULK4
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)nssv537077
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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