A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458067



Internal ID15518132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49061284..49124067hg38UCSC Ensembl
Innerchr18:46587654..46650437hg19UCSC Ensembl
Innerchr18:44841652..44904435hg18UCSC Ensembl
Innerchr18:44841652..44904435hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3862784
hg1962784
hg1862784
hg1762784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535115
SamplesNINDS_119
Known GenesDYM
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)nsv458067
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