A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465812



Internal ID15525877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131416264..131552411hg38UCSC Ensembl
Innerchr8:132428511..132564658hg19UCSC Ensembl
Innerchr8:132497693..132633840hg18UCSC Ensembl
Innerchr8:132497693..132633840hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38136148
hg19136148
hg18136148
hg17136148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541543
SamplesHGDP01271
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)nsv465812
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer