A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542800



Internal ID15502871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133412162..133616539hg38UCSC Ensembl
Innerchr10:135225666..135430043hg19UCSC Ensembl
Innerchr10:135075656..135280033hg18UCSC Ensembl
Innerchr10:135114547..135318924hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38204378
hg19204378
hg18204378
hg17204378
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467529
Supporting Variants
Samples1780854574_A
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)nssv542800
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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