A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456212



Internal ID15516277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39488233..39627684hg38UCSC Ensembl
Innerchr14:39957437..40096888hg19UCSC Ensembl
Innerchr14:39027188..39166639hg18UCSC Ensembl
Innerchr14:39027188..39166639hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38139452
hg19139452
hg18139452
hg17139452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533578
SamplesHGDP00563
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)nsv456212
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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