A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458097



Internal ID15518162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:62587556..62623811hg38UCSC Ensembl
Innerchr18:60254789..60291044hg19UCSC Ensembl
Innerchr18:58405769..58442024hg18UCSC Ensembl
Innerchr18:58405769..58442024hg17UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3836256
hg1936256
hg1836256
hg1736256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535135
SamplesNINDS_61
Known Genes
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)nsv458097
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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