A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457977



Internal ID15518042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:289153..407958hg38UCSC Ensembl
Innerchr18:289153..407958hg19UCSC Ensembl
Innerchr18:279153..397958hg18UCSC Ensembl
Innerchr18:279153..397958hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38118806
hg19118806
hg18118806
hg17118806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535061
Samples1780862457_A
Known GenesCOLEC12
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)nsv457977
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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