A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962518



Internal ID18868802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49917930..49918010hg38UCSC Ensembl
Outerchr22:50311578..50311658hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111237
Supporting Variants
SamplesKWS1
Known GenesALG12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962518
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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