A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460750



Internal ID15520815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:85604283..85640993hg38UCSC Ensembl
Innerchr3:85653433..85690143hg19UCSC Ensembl
Innerchr3:85736123..85772833hg18UCSC Ensembl
Innerchr3:85736123..85772833hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3836711
hg1936711
hg1836711
hg1736711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv610n27
Supporting Variantsnssv537262
SamplesHGDP01238
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)nsv460750
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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