A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147614



Internal ID19201830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35343211..35343343hg38UCSC Ensembl
Outerchr22:35739204..35739336hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996401
SamplesKWB1
Known GenesTOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147614
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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