A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458287



Internal ID15518352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71403379..71432372hg38UCSC Ensembl
Innerchr18:69070615..69099608hg19UCSC Ensembl
Innerchr18:67221595..67250588hg18UCSC Ensembl
Innerchr18:67221595..67250588hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3828994
hg1928994
hg1828994
hg1728994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535250
SamplesNINDS_84
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)nsv458287
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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