A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466270



Internal ID15179649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:17236378..17377631hg38UCSC Ensembl
Innerchr9:17236376..17377629hg19UCSC Ensembl
Innerchr9:17226376..17367629hg18UCSC Ensembl
Innerchr9:17226376..17367629hg17UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38141254
hg19141254
hg18141254
hg17141254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541862
Samples1780862312_A
Known GenesCNTLN
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)nsv466270
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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