A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151989



Internal ID19201240
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 StatusM
Merged Variants
Supporting Variantsnssv3999171
SamplesKWB1
Known GenesFAM19A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151989
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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