A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988234



Internal ID19219242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:30623815..30623897hg38UCSC Ensembl
Outerchr22:31019802..31019884hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133313
Supporting Variants
SamplesKWS1
Known GenesTCN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988234
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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