A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541558



Internal ID15505913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675295..136838205hg38UCSC Ensembl
Innerchr8:137687538..137850448hg19UCSC Ensembl
Innerchr8:137756720..137919630hg18UCSC Ensembl
Innerchr8:137756720..137919630hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38162911
hg19162911
hg18162911
hg17162911
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465840
Supporting Variants
SamplesHGDP00279
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)nssv541558
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