A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460447



Internal ID15173826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14533936..14545810hg38UCSC Ensembl
Innerchr3:14575443..14587317hg19UCSC Ensembl
Innerchr3:14550447..14562321hg18UCSC Ensembl
Innerchr3:14550447..14562321hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3811875
hg1911875
hg1811875
hg1711875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537016
SamplesHGDP01147
Known GenesGRIP2
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)nsv460447
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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