A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971880



Internal ID48608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109340603..109343372hg38UCSC Ensembl
chr5:108676304..108679073hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382770
hg192770
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421007
Supporting Variants
Samples
Known GenesPJA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971880
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.5


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