A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992928



Internal ID19238953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50020171..50022571hg38UCSC Ensembl
Outerchr22:50458600..50461000hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141423
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992928
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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