A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966450



Internal ID18890955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29300008..29300076hg38UCSC Ensembl
Outerchr22:29695998..29696066hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112372
Supporting Variants
SamplesKWS2
Known GenesEWSR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966450
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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