A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313415



Internal ID22225948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68261430..68261430hg38UCSC Ensembl
chr4:69127148..69127148hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564093
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313415
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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