A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393450



Internal ID22286557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5144451..5144525hg38UCSC Ensembl
chr19:5144462..5144536hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190532
Supporting Variants
SamplesNA19240
Known GenesKDM4B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14393450
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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