A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533630



Internal ID15511733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45555472..45989493hg38UCSC Ensembl
Innerchr14:46024675..46458696hg19UCSC Ensembl
Innerchr14:45094425..45528446hg18UCSC Ensembl
Innerchr14:45094425..45528446hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38434022
hg19434022
hg18434022
hg17434022
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456282
Supporting Variants
SamplesNINDS_136
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)nssv533630
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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