A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535091



Internal ID15507679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10814336..10863851hg38UCSC Ensembl
Innerchr18:10814334..10863849hg19UCSC Ensembl
Innerchr18:10804334..10853849hg18UCSC Ensembl
Innerchr18:10804334..10853849hg17UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3849516
hg1949516
hg1849516
hg1749516
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458028
Supporting Variants
SamplesHGDP00696
Known GenesPIEZO2
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)nssv535091
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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