A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542791



Internal ID15508378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133404452..133620799hg38UCSC Ensembl
Innerchr10:135217956..135434303hg19UCSC Ensembl
Innerchr10:135067946..135284293hg18UCSC Ensembl
Innerchr10:135106837..135323184hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38216348
hg19216348
hg18216348
hg17216348
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467516
Supporting Variants
SamplesHGDP00812
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
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)nssv542791
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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