A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465748



Internal ID15525813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101096809..101119512hg38UCSC Ensembl
Innerchr8:102109037..102131740hg19UCSC Ensembl
Innerchr8:102178213..102200916hg18UCSC Ensembl
Innerchr8:102178213..102200916hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3822704
hg1922704
hg1822704
hg1722704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541496
SamplesHGDP00772
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)nsv465748
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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