A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450169



Internal ID22245377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163123422..163123678hg38UCSC Ensembl
chr2:163979932..163980188hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177231
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450169
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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