A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460479



Internal ID15520544
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537042
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)nsv460479
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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