A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425178



Internal ID22164944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184844692..184844893hg38UCSC Ensembl
chr3:184562480..184562681hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176226
Supporting Variants
SamplesHG00514
Known GenesVPS8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425178
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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