A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429618



Internal ID22171398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62102863..62104334hg38UCSC Ensembl
chr8:63015422..63016893hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381472
hg191472
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174475
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14429618
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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