A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537042



Internal ID15506683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23585428..23766059hg38UCSC Ensembl
Innerchr3:23626919..23807550hg19UCSC Ensembl
Innerchr3:23601923..23782554hg18UCSC Ensembl
Innerchr3:23601923..23782554hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38180632
hg19180632
hg18180632
hg17180632
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460479
Supporting Variants
SamplesHGDP00543
Known GenesMIR548AC, UBE2E2
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)nssv537042
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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