A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519101



Internal ID15446394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:74248352..74255554hg38UCSC Ensembl
Innerchr18:71915587..71922789hg19UCSC Ensembl
Innerchr18:70066567..70073769hg18UCSC Ensembl
Innerchr18:70066567..70073769hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg387203
hg197203
hg187203
hg177203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696575
Samples
Known GenesCYB5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519101
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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