A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312142



Internal ID22312986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453222..229453404hg38UCSC Ensembl
chr1:229588969..229589151hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525530
Supporting Variants
SamplesNA19240
Known GenesNUP133
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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