A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456455



Internal ID8483502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104687768..104793397hg38UCSC Ensembl
Innerchr14:105154105..105259734hg19UCSC Ensembl
Innerchr14:104225150..104330779hg18UCSC Ensembl
Innerchr14:104225150..104330779hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38105630
hg19105630
hg18105630
hg17105630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533769
SamplesHGDP00950
Known GenesADSSL1, AKT1, INF2, SIVA1
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)nsv456455
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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