A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461035



Internal ID15521100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185937136..185962797hg38UCSC Ensembl
Innerchr3:185654924..185680586hg19UCSC Ensembl
Innerchr3:187137618..187163280hg18UCSC Ensembl
Innerchr3:187137626..187163288hg17UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3825662
hg1925663
hg1825663
hg1725663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537487
SamplesHGDP01300
Known GenesLOC344887, TRA2B
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)nsv461035
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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