A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380175



Internal ID22314142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79652542..79652542hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548967
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)nssv14380175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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