A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456420



Internal ID15516485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:98886908..98908984hg38UCSC Ensembl
Innerchr14:99353245..99375321hg19UCSC Ensembl
Innerchr14:98422998..98445074hg18UCSC Ensembl
Innerchr14:98422998..98445074hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3822077
hg1922077
hg1822077
hg1722077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533746
SamplesHGDP00721
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)nsv456420
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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