A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987357



Internal ID18857490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29232311..29235011hg38UCSC Ensembl
Outerchr22:29628300..29631000hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132574
Supporting Variants
SamplesKWS1
Known GenesEMID1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987357
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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