A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541462



Internal ID15507275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70986138..71051176hg38UCSC Ensembl
Innerchr8:71898373..71963411hg19UCSC Ensembl
Innerchr8:72060927..72125965hg18UCSC Ensembl
Innerchr8:72060927..72125965hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3865039
hg1965039
hg1865039
hg1765039
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465711
Supporting Variants
SamplesHGDP00635
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)nssv541462
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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