A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374719



Internal ID22311008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30309862..30309928hg38UCSC Ensembl
chr8:30167378..30167444hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227453
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)nssv14374719
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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