A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465263



Internal ID15525328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:214984..463288hg38UCSC Ensembl
Innerchr8:164984..413288hg19UCSC Ensembl
Innerchr8:154984..403288hg18UCSC Ensembl
Innerchr8:154984..403288hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38248305
hg19248305
hg18248305
hg17248305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541096
SamplesHGDP01414
Known GenesFAM87A, FBXO25, RPL23AP53, ZNF596
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)nsv465263
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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