A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460748



Internal ID15520813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:85144904..85253323hg38UCSC Ensembl
Innerchr3:85194054..85302473hg19UCSC Ensembl
Innerchr3:85276744..85385163hg18UCSC Ensembl
Innerchr3:85276744..85385163hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38108420
hg19108420
hg18108420
hg17108420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537261
SamplesHGDP00963
Known GenesCADM2
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)nsv460748
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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