A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914870



Internal ID10664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60758694..60758787hg38UCSC Ensembl
chr2:60985829..60985922hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449084
Supporting Variants
Samples
Known GenesPAPOLG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914870
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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