A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425853



Internal ID22483723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121191542..121198037hg38UCSC Ensembl
chr6:121512688..121519183hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386496
hg196496
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5972474
Supporting Variants
Samples
Known GenesTBC1D32
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425853
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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