A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401729



Internal ID22313413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115076086..115076086hg38UCSC Ensembl
chr8:116088315..116088315hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554198
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)nssv14401729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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