A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969026



Internal ID46678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124952067..124956346hg38UCSC Ensembl
chr6:125273213..125277492hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg384280
hg194280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466720
Supporting Variants
Samples
Known GenesSTL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969026
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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