A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456181



Internal ID15516246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27885392..27972675hg38UCSC Ensembl
Innerchr14:28354598..28441881hg19UCSC Ensembl
Innerchr14:27424438..27511721hg18UCSC Ensembl
Innerchr14:27424438..27511721hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3887284
hg1987284
hg1887284
hg1787284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533557
SamplesHGDP01053
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)nsv456181
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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