A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460818



Internal ID15520883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:110288358..110436977hg38UCSC Ensembl
Innerchr3:110007205..110155824hg19UCSC Ensembl
Innerchr3:111489895..111638514hg18UCSC Ensembl
Innerchr3:111489895..111638514hg17UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38148620
hg19148620
hg18148620
hg17148620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537320
SamplesHGDP00529
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)nsv460818
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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