A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996401



Internal ID19193384
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 StatusS
Merged Variantsnsv1147614
Supporting Variants
SamplesKWB1
Known GenesTOM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996401
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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