A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399065



Internal ID22289356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75239128..75239128hg38UCSC Ensembl
chr5:74534953..74534953hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540847
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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