A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522502



Internal ID15449795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:73436118..73436421hg38UCSC Ensembl
Innerchr8:74348353..74348656hg19UCSC Ensembl
Innerchr8:74510907..74511210hg18UCSC Ensembl
Innerchr8:74510907..74511210hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
hg17304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705870
Samples
Known GenesSTAU2, STAU2-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522502
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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