A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465737



Internal ID15525802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91675488..91858531hg38UCSC Ensembl
Innerchr8:92687716..92870759hg19UCSC Ensembl
Innerchr8:92756892..92939935hg18UCSC Ensembl
Innerchr8:92756892..92939935hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38183044
hg19183044
hg18183044
hg17183044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541486
SamplesHGDP01186
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)nsv465737
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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