A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122840



Internal ID19281731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:70138334..70138397hg38UCSC Ensembl
Outerchr13:70712466..70712529hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971431
SamplesKWS2
Known GenesATXN8OS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122840
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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