A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122927



Internal ID18935519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92091640..92091707hg38UCSC Ensembl
Outerchr14:92557984..92558051hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971519
SamplesKWS2
Known GenesATXN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122927
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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