A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117319



Internal ID19270897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43432770..43432831hg38UCSC Ensembl
Outerchr22:43828710..43828765hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3862
hg1956
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979513
SamplesKWS2
Known GenesMPPED1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117319
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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