A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980519



Internal ID54392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34480351..34494646hg38UCSC Ensembl
chr6:34448128..34462423hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3814296
hg1914296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457137
Supporting Variants
Samples
Known GenesPACSIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980519
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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