A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959579



Internal ID19214528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:18777387..18780387hg38UCSC Ensembl
Outerchr22:18764900..18767900hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118686
Supporting Variants
SamplesKWS1
Known GenesGGT3P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959579
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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