A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458144



Internal ID15518209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68833759..68923542hg38UCSC Ensembl
Innerchr18:66500996..66590779hg19UCSC Ensembl
Innerchr18:64651976..64741759hg18UCSC Ensembl
Innerchr18:64651976..64741759hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3889784
hg1989784
hg1889784
hg1789784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535162
SamplesHGDP00765
Known GenesCCDC102B
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)nsv458144
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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