A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458048



Internal ID15171427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:33840046..33917382hg38UCSC Ensembl
Innerchr18:31420010..31497346hg19UCSC Ensembl
Innerchr18:29674008..29751344hg18UCSC Ensembl
Innerchr18:29674008..29751344hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3877337
hg1977337
hg1877337
hg1777337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535104
Samples1780862093_A
Known GenesNOL4
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)nsv458048
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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