A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464600



Internal ID15524665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79352403..79401606hg38UCSC Ensembl
Innerchr7:78981719..79030922hg19UCSC Ensembl
Innerchr7:78819655..78868858hg18UCSC Ensembl
Innerchr7:78626370..78675573hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3849204
hg1949204
hg1849204
hg1749204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540493
Samples1782681316_A
Known GenesMAGI2
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)nsv464600
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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