A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465798



Internal ID15525863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122170717..122658757hg38UCSC Ensembl
Innerchr8:123182956..123670996hg19UCSC Ensembl
Innerchr8:123252137..123740177hg18UCSC Ensembl
Innerchr8:123252137..123740177hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38488041
hg19488041
hg18488041
hg17488041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541531
SamplesHGDP01095
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)nsv465798
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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