A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451767



Internal ID22246762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53923793..53925222hg38UCSC Ensembl
chr4:54789960..54791389hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188300
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451767
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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