A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466280



Internal ID15526345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:18033946..18166114hg38UCSC Ensembl
Innerchr9:18033944..18166112hg19UCSC Ensembl
Innerchr9:18023944..18156112hg18UCSC Ensembl
Innerchr9:18023944..18156112hg17UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38132169
hg19132169
hg18132169
hg17132169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541868
SamplesHGDP00290
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)nsv466280
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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