A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456294



Internal ID15516359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46784802..46926598hg38UCSC Ensembl
Innerchr14:47254005..47395801hg19UCSC Ensembl
Innerchr14:46323755..46465551hg18UCSC Ensembl
Innerchr14:46323755..46465551hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38141797
hg19141797
hg18141797
hg17141797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533639
SamplesNINDS_95
Known GenesMDGA2
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)nsv456294
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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