A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465778



Internal ID15525843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114219788..114330448hg38UCSC Ensembl
Innerchr8:115232017..115342677hg19UCSC Ensembl
Innerchr8:115301193..115411853hg18UCSC Ensembl
Innerchr8:115301193..115411853hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38110661
hg19110661
hg18110661
hg17110661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541516
SamplesNINDS_142
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)nsv465778
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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