A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989007



Internal ID60096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149725575..149730434hg38UCSC Ensembl
chr6:150046711..150051570hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg384860
hg194860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466489
Supporting Variants
Samples
Known GenesNUP43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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