A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465444



Internal ID15525509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8240557..8287918hg38UCSC Ensembl
Innerchr8:8098079..8145440hg19UCSC Ensembl
Innerchr8:8135489..8182850hg18UCSC Ensembl
Innerchr8:8135489..8182850hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3847362
hg1947362
hg1847362
hg1747362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv863n27
Supporting Variantsnssv541241
SamplesNINDS_37
Known GenesFAM86B3P
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)nsv465444
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