A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436918



Internal ID22180095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30987325..30987395hg38UCSC Ensembl
chr6:30955102..30955172hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3172771
Supporting Variants
SamplesHG00514
Known GenesMUC21
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14436918
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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