A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537577



Internal ID15162574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197308114..197607658hg38UCSC Ensembl
Innerchr3:197034985..197334529hg19UCSC Ensembl
Innerchr3:198519382..198818926hg18UCSC Ensembl
Innerchr3:198523295..198822839hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38299545
hg19299545
hg18299545
hg17299545
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461136
Supporting Variants
SamplesHGDP00966
Known GenesBDH1
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)nssv537577
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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