A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537031



Internal ID15508570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:21041604..21137840hg38UCSC Ensembl
Innerchr3:21083096..21179332hg19UCSC Ensembl
Innerchr3:21058100..21154336hg18UCSC Ensembl
Innerchr3:21058100..21154336hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3896237
hg1996237
hg1896237
hg1796237
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460463
Supporting Variants
SamplesHGDP00864
Known Genes
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)nssv537031
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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