A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527458



Internal ID8421733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91974722..92059127hg38UCSC Ensembl
Innerchr14:92441066..92525471hg19UCSC Ensembl
Innerchr14:91510819..91595224hg18UCSC Ensembl
Innerchr14:91510819..91595224hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3884406
hg1984406
hg1884406
hg1784406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703900
Samples
Known GenesATXN3, TRIP11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527458
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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