A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456170



Internal ID15516235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25954273..26009405hg38UCSC Ensembl
Innerchr14:26423479..26478611hg19UCSC Ensembl
Innerchr14:25493319..25548451hg18UCSC Ensembl
Innerchr14:25493319..25548451hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3855133
hg1955133
hg1855133
hg1755133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533550
SamplesHGDP00734
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)nsv456170
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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