A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456604



Internal ID15516669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106668226..106865837hg38UCSC Ensembl
Innerchr14:107124242..107274052hg19UCSC Ensembl
Innerchr14:106195287..106345097hg18UCSC Ensembl
Innerchr14:106195287..106345097hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38197612
hg19149811
hg18149811
hg17149811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533911
SamplesHGDP00901
Known Genes
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)nsv456604
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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