A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143040



Internal ID19276056
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 StatusM
Merged Variants
Supporting Variantsnssv3962038, nssv3979517
SamplesKWS2, KWS1
Known GenesMAPK11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143040
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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