A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465853



Internal ID15525918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675295..136851516hg38UCSC Ensembl
Innerchr8:137687538..137863759hg19UCSC Ensembl
Innerchr8:137756720..137932941hg18UCSC Ensembl
Innerchr8:137756720..137932941hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38176222
hg19176222
hg18176222
hg17176222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv898n27
Supporting Variantsnssv541571
SamplesHGDP00892
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)nsv465853
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