A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999171



Internal ID19188259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48577187..48586288hg38UCSC Ensembl
Outerchr22:48972999..48982100hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg389102
hg199102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151989
Supporting Variants
SamplesKWB1
Known GenesFAM19A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999171
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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