A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465723



Internal ID15525788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:82399997..82492913hg38UCSC Ensembl
Innerchr8:83312232..83405148hg19UCSC Ensembl
Innerchr8:83474787..83567703hg18UCSC Ensembl
Innerchr8:83474787..83567703hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3892917
hg1992917
hg1892917
hg1792917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541473
SamplesHGDP01385
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)nsv465723
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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