A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535121



Internal ID15511027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52830052..53096534hg38UCSC Ensembl
Innerchr18:50356422..50622904hg19UCSC Ensembl
Innerchr18:48610420..48876902hg18UCSC Ensembl
Innerchr18:48610420..48876902hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38266483
hg19266483
hg18266483
hg17266483
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458079
Supporting Variants
SamplesHGDP01339
Known GenesDCC
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)nssv535121
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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