A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456216



Internal ID15516281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40460102..40479184hg38UCSC Ensembl
Innerchr14:40929306..40948388hg19UCSC Ensembl
Innerchr14:39999056..40018138hg18UCSC Ensembl
Innerchr14:39999056..40018138hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3819083
hg1919083
hg1819083
hg1719083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533581
SamplesHGDP01030
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)nsv456216
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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