A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541532



Internal ID15507702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122540501..122596476hg38UCSC Ensembl
Innerchr8:123552740..123608715hg19UCSC Ensembl
Innerchr8:123621921..123677896hg18UCSC Ensembl
Innerchr8:123621921..123677896hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3855976
hg1955976
hg1855976
hg1755976
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465800
Supporting Variants
SamplesHGDP00699
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)nssv541532
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