A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967313



Internal ID19244095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38870595..38872795hg38UCSC Ensembl
Outerchr22:39266600..39268800hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112815
Supporting Variants
SamplesKWS2
Known GenesCBX6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967313
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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