A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406962



Internal ID22326841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172492391..172492492hg38UCSC Ensembl
chr1:172461531..172461632hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170983
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406962
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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