A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456166



Internal ID8483213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23392602..23418656hg38UCSC Ensembl
Innerchr14:23861811..23887865hg19UCSC Ensembl
Innerchr14:22931651..22957705hg18UCSC Ensembl
Innerchr14:22931651..22957705hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3826055
hg1926055
hg1826055
hg1726055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533548
SamplesHGDP00564
Known GenesMIR208B, MYH6, MYH7
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)nsv456166
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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