A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312676



Internal ID22259524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234274268..234276405hg38UCSC Ensembl
chr1:234410014..234412151hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382138
hg192138
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192844
Supporting Variants
SamplesNA19238
Known GenesSLC35F3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312676
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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