A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451163



Internal ID22246244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115694491..115694687hg38UCSC Ensembl
chr3:115413338..115413534hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180734
Supporting Variants
SamplesHG00733
Known GenesGAP43
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451163
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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