A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537357



Internal ID15502913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140288452..140461721hg38UCSC Ensembl
Innerchr3:140007294..140180563hg19UCSC Ensembl
Innerchr3:141489984..141663253hg18UCSC Ensembl
Innerchr3:141489992..141663261hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38173270
hg19173270
hg18173270
hg17173270
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460867
Supporting Variants
Samples1780862001_A
Known GenesCLSTN2
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)nssv537357
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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