A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394873



Internal ID22328353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166889876..166892184hg38UCSC Ensembl
chr2:167746386..167748694hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179192
Supporting Variants
SamplesNA19240
Known GenesXIRP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394873
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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