A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399383



Internal ID22297071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117214474..117214607hg38UCSC Ensembl
chr5:116550170..116550303hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170761
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)nssv14399383
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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