A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465722



Internal ID15525787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81763310..81844856hg38UCSC Ensembl
Innerchr8:82675545..82757091hg19UCSC Ensembl
Innerchr8:82838100..82919646hg18UCSC Ensembl
Innerchr8:82838100..82919646hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3881547
hg1981547
hg1881547
hg1781547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541472
SamplesHGDP01077
Known GenesSNX16
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)nsv465722
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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