A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122856



Internal ID18926357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98494260..98494334hg38UCSC Ensembl
Outerchr13:99146514..99146588hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971446
SamplesKWS2
Known GenesSTK24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122856
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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