A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466422



Internal ID15526487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76160654..76181606hg38UCSC Ensembl
Innerchr9:78775570..78796522hg19UCSC Ensembl
Innerchr9:77965390..77986342hg18UCSC Ensembl
Innerchr9:76005124..76026076hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3820953
hg1920953
hg1820953
hg1720953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541970
SamplesHGDP00797
Known GenesPCSK5
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)nsv466422
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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