A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143028



Internal ID18903920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23881812..23882120hg38UCSC Ensembl
Outerchr22:24223999..24224307hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979512, nssv3963981
SamplesKWS1, KWS2
Known GenesSLC2A11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143028
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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