A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535113



Internal ID15508549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48637601..48664350hg38UCSC Ensembl
Innerchr18:46163972..46190721hg19UCSC Ensembl
Innerchr18:44417970..44444719hg18UCSC Ensembl
Innerchr18:44417970..44444719hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3826750
hg1926750
hg1826750
hg1726750
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458065
Supporting Variants
SamplesHGDP00862
Known GenesCTIF
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)nssv535113
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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