A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538108



Internal ID15163173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67013915..67223353hg38UCSC Ensembl
Innerchr1:67479598..67689036hg19UCSC Ensembl
Innerchr1:67252186..67461624hg18UCSC Ensembl
Innerchr1:67191619..67401057hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38209439
hg19209439
hg18209439
hg17209439
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461751
Supporting Variants
SamplesHGDP01099
Known GenesC1orf141, IL23R, SLC35D1
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)nssv538108
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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