A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984707



Internal ID57192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42935953..42936004hg38UCSC Ensembl
chr6:42903691..42903742hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409411
Supporting Variants
Samples
Known GenesCNPY3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010147


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