A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001130



Internal ID19191477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41744485..41744797hg38UCSC Ensembl
Outerchr22:42140489..42140801hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153215
Supporting Variants
SamplesKWB1
Known GenesMEI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001130
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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