A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987485



Internal ID59099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116903437..116904143hg38UCSC Ensembl
chr6:117224600..117225306hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455961
Supporting Variants
Samples
Known GenesRFX6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987485
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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