A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398386



Internal ID22308016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53923793..53925220hg38UCSC Ensembl
chr4:54789960..54791387hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189135
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)nssv14398386
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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