A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128850



Internal ID19257716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:15315563..15321363hg38UCSC Ensembl
Outerchr22:16656600..16662400hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961519
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128850
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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