A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419736



Internal ID22157009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43566430..43566593hg38UCSC Ensembl
chr18:41146395..41146558hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190509
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)nssv14419736
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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