A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003034



Internal ID18847752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50019170..50023871hg38UCSC Ensembl
Outerchr22:50457599..50462300hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151614
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003034
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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