A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541403



Internal ID15508599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31288942..31316342hg38UCSC Ensembl
Innerchr8:31146458..31173858hg19UCSC Ensembl
Innerchr8:31266000..31293400hg18UCSC Ensembl
Innerchr8:31266000..31293400hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3827401
hg1927401
hg1827401
hg1727401
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465631
Supporting Variants
SamplesHGDP00868
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)nssv541403
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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