A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400058



Internal ID22309799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121226943..121227264hg38UCSC Ensembl
chr6:121548089..121548410hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189376
Supporting Variants
SamplesNA19240
Known GenesTBC1D32
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400058
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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