A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979169



Internal ID53493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17110618..17112573hg38UCSC Ensembl
chr6:17110849..17112804hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381956
hg191956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472912
Supporting Variants
Samples
Known GenesSTMND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979169
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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