A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456428



Internal ID15516493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100678729..100728224hg38UCSC Ensembl
Innerchr14:101145066..101194561hg19UCSC Ensembl
Innerchr14:100214819..100264314hg18UCSC Ensembl
Innerchr14:100214819..100264314hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3849496
hg1949496
hg1849496
hg1749496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533751
SamplesNINDS_33
Known GenesDLK1
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)nsv456428
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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