A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526041



Internal ID15106648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:83137074..83389558hg38UCSC Ensembl
Innerchr4:84058227..84310711hg19UCSC Ensembl
Innerchr4:84277251..84529735hg18UCSC Ensembl
Innerchr4:84415406..84667890hg17UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38252485
hg19252485
hg18252485
hg17252485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702274
Samples
Known GenesCOQ2, HPSE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526041
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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