A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458782



Internal ID15172161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53961144..54093354hg38UCSC Ensembl
Innerchr19:54464398..54596619hg19UCSC Ensembl
Innerchr19:59156210..59288431hg18UCSC Ensembl
Innerchr19:59156210..59288431hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38132211
hg19132222
hg18132222
hg17132222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535683
SamplesHGDP00080
Known GenesCACNG6, CACNG8, MIR935, TARM1, VSTM1
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)nsv458782
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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