A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962035



Internal ID19207299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45349558..45349622hg38UCSC Ensembl
Outerchr22:45745439..45745503hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120448
Supporting Variants
SamplesKWS1
Known GenesSMC1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962035
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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