A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466655



Internal ID15180034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135258742..135419084hg38UCSC Ensembl
Innerchr9:138150588..138310930hg19UCSC Ensembl
Innerchr9:137290409..137450751hg18UCSC Ensembl
Innerchr9:135376533..135536875hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38160343
hg19160343
hg18160343
hg17160343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv952n27
Supporting Variantsnssv542146
Samples1780854017_A
Known GenesC9orf62
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)nsv466655
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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