A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542793



Internal ID15155808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133412162..133527325hg38UCSC Ensembl
Innerchr10:135225666..135340829hg19UCSC Ensembl
Innerchr10:135075656..135190819hg18UCSC Ensembl
Innerchr10:135114547..135229710hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38115164
hg19115164
hg18115164
hg17115164
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467518
Supporting Variants
Samples1780854418_A
Known GenesMTG1, SCART1, SPRN
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)nssv542793
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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