A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425652



Internal ID22165647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43541207..43542112hg38UCSC Ensembl
chr5:43541309..43542214hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186620
Supporting Variants
SamplesHG00514
Known GenesPAIP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425652
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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