A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979517



Internal ID19234350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50265884..50265976hg38UCSC Ensembl
Outerchr22:50704313..50704405hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143040
Supporting Variants
SamplesKWS2
Known GenesMAPK11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979517
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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