A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424691



Internal ID22164224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134929066..134929220hg38UCSC Ensembl
chr5:134264756..134264910hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184336
Supporting Variants
SamplesHG00514
Known GenesPCBD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424691
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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