A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533636



Internal ID15511424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46062769..46330787hg38UCSC Ensembl
Innerchr14:46531972..46799990hg19UCSC Ensembl
Innerchr14:45601722..45869740hg18UCSC Ensembl
Innerchr14:45601722..45869740hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38268019
hg19268019
hg18268019
hg17268019
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456288
Supporting Variants
SamplesHGDP01416
Known GenesLINC00871
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)nssv533636
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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