A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147704



Internal ID19201213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50793371..50804872hg38UCSC Ensembl
Outerchr22:51231799..51243300hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811502
hg1911502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996489
SamplesKWB1
Known GenesRPL23AP82
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147704
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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