A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458033



Internal ID15171412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23220751..23290196hg38UCSC Ensembl
Innerchr18:20800715..20870160hg19UCSC Ensembl
Innerchr18:19054713..19124158hg18UCSC Ensembl
Innerchr18:19054713..19124158hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3869446
hg1969446
hg1869446
hg1769446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535094
Samples1780854288_A
Known GenesCABLES1
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)nsv458033
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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