A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535135



Internal ID15512777
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458097
Supporting Variants
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)nssv535135
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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