A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969734



Internal ID47142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130791126..130823928hg38UCSC Ensembl
chr6:131112268..131145068hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3832803
hg1932801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466167
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969734
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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