A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541575



Internal ID15502926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136833690hg38UCSC Ensembl
Innerchr8:137687955..137845933hg19UCSC Ensembl
Innerchr8:137757137..137915115hg18UCSC Ensembl
Innerchr8:137757137..137915115hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38157979
hg19157979
hg18157979
hg17157979
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465857
Supporting Variants
Samples1780862002_A
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)nssv541575
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