A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457281



Internal ID22251367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3402417..3402507hg38UCSC Ensembl
chr6:3402651..3402741hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179301
Supporting Variants
SamplesHG00733
Known GenesSLC22A23
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457281
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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