A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969929



Internal ID47275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125971498..125971575hg38UCSC Ensembl
chr6:126292644..126292721hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464563
Supporting Variants
Samples
Known GenesHINT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969929
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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