A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458298



Internal ID15518363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:74445966..74467617hg38UCSC Ensembl
Innerchr18:72113201..72134852hg19UCSC Ensembl
Innerchr18:70264181..70285832hg18UCSC Ensembl
Innerchr18:70264181..70285832hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3821652
hg1921652
hg1821652
hg1721652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535258
Samples1780862575_A
Known GenesFAM69C
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)nsv458298
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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