A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458053



Internal ID15171432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37373082..37401653hg38UCSC Ensembl
Innerchr18:34953045..34981616hg19UCSC Ensembl
Innerchr18:33207043..33235614hg18UCSC Ensembl
Innerchr18:33207043..33235614hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3828572
hg1928572
hg1828572
hg1728572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535107
SamplesNINDS_69
Known GenesCELF4
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)nsv458053
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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