A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962512



Internal ID19214955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32569295..32569447hg38UCSC Ensembl
Outerchr22:32965281..32965433hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111234
Supporting Variants
SamplesKWS1
Known GenesSYN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962512
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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