A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118942



Internal ID18932507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19765977..19766977hg38UCSC Ensembl
Outerchr22:19753500..19754500hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981729
SamplesKWS1
Known GenesTBX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118942
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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