A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288698



Internal ID22263709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161068985..161071277hg38UCSC Ensembl
chr1:161038775..161041067hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382293
hg192293
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192271
Supporting Variants
SamplesNA19238
Known GenesARHGAP30, PVRL4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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