A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466430



Internal ID15526495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87055090..87162582hg38UCSC Ensembl
Innerchr9:89670005..89777497hg19UCSC Ensembl
Innerchr9:88859825..88967317hg18UCSC Ensembl
Innerchr9:86899559..87007051hg17UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38107493
hg19107493
hg18107493
hg17107493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541977
SamplesHGDP00955
Known GenesC9orf170, LOC494127
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)nsv466430
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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