A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458086



Internal ID15171465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57517516..57756707hg38UCSC Ensembl
Innerchr18:55184748..55423939hg19UCSC Ensembl
Innerchr18:53335746..53574937hg18UCSC Ensembl
Innerchr18:53335746..53574937hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38239192
hg19239192
hg18239192
hg17239192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535125
SamplesHGDP01212
Known GenesATP8B1, FECH, LOC100505549, NARS
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)nsv458086
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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