A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535239



Internal ID15510772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69280112..69316645hg38UCSC Ensembl
Innerchr18:66947348..66983881hg19UCSC Ensembl
Innerchr18:65098328..65134861hg18UCSC Ensembl
Innerchr18:65098328..65134861hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3836534
hg1936534
hg1836534
hg1736534
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458275
Supporting Variants
SamplesHGDP01297
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)nssv535239
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer