A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461048



Internal ID22213623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144372388..144372491hg38UCSC Ensembl
chr5:143751951..143752054hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174834
Supporting Variants
SamplesHG00733
Known GenesKCTD16
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461048
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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