A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456413



Internal ID15169792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96219367..96222332hg38UCSC Ensembl
Innerchr14:96685704..96688669hg19UCSC Ensembl
Innerchr14:95755457..95758422hg18UCSC Ensembl
Innerchr14:95755457..95758422hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382966
hg192966
hg182966
hg172966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv262n27
Supporting Variantsnssv533739
SamplesHGDP00930
Known GenesBDKRB2
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)nsv456413
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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