A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465967



Internal ID22218253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89010252..89012967hg38UCSC Ensembl
chr1:89475935..89478650hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382716
hg192716
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189704
Supporting Variants
SamplesHG00733
Known GenesGBP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465967
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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