A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153950



Internal ID18851148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29120246..29120298hg38UCSC Ensembl
Outerchr22:29516234..29516286hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003226
SamplesKWB1
Known GenesKREMEN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153950
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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