A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458073



Internal ID15518138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52006180..52138102hg38UCSC Ensembl
Innerchr18:49532550..49664472hg19UCSC Ensembl
Innerchr18:47786548..47918470hg18UCSC Ensembl
Innerchr18:47786548..47918470hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38131923
hg19131923
hg18131923
hg17131923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535118
SamplesHGDP00622
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)nsv458073
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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