A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456197



Internal ID15516262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30917220..30948610hg38UCSC Ensembl
Innerchr14:31386426..31417816hg19UCSC Ensembl
Innerchr14:30456177..30487567hg18UCSC Ensembl
Innerchr14:30456177..30487567hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3831391
hg1931391
hg1831391
hg1731391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533566
SamplesHGDP01249
Known GenesSTRN3
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)nsv456197
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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