A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538118



Internal ID15164504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67085526..67182777hg38UCSC Ensembl
Innerchr1:67551209..67648460hg19UCSC Ensembl
Innerchr1:67323797..67421048hg18UCSC Ensembl
Innerchr1:67263230..67360481hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3897252
hg1997252
hg1897252
hg1797252
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461762
Supporting Variants
SamplesHGDP01368
Known GenesC1orf141, IL23R
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)nssv538118
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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