A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129686



Internal ID19261471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36122563..36122632hg38UCSC Ensembl
Outerchr22:36518611..36518680hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963982
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129686
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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