A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458069



Internal ID15518134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49646360..49691751hg38UCSC Ensembl
Innerchr18:47172730..47218121hg19UCSC Ensembl
Innerchr18:45426728..45472119hg18UCSC Ensembl
Innerchr18:45426728..45472119hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3845392
hg1945392
hg1845392
hg1745392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535117
Samples1782681329_A
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)nsv458069
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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