A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535272



Internal ID15161323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80138359..80217100hg38UCSC Ensembl
Innerchr18:77896242..77974983hg19UCSC Ensembl
Innerchr18:75997233..76075974hg18UCSC Ensembl
Innerchr18:75997233..76075974hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3878742
hg1978742
hg1878742
hg1778742
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458317
Supporting Variants
SamplesHGDP00752
Known GenesADNP2, PARD6G, PARD6G-AS1
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)nssv535272
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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