A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984711



Internal ID57195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42973563..42975786hg38UCSC Ensembl
chr6:42941301..42943524hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382224
hg192224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465493
Supporting Variants
Samples
Known GenesPEX6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984711
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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