A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526044



Internal ID15453337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118066957..118069965hg38UCSC Ensembl
Innerchr8:119079196..119082204hg19UCSC Ensembl
Innerchr8:119148377..119151385hg18UCSC Ensembl
Innerchr8:119148377..119151385hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg383009
hg193009
hg183009
hg173009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702278
Samples
Known GenesEXT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526044
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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