A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971669



Internal ID48468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111949811..112093718hg38UCSC Ensembl
chr5:111285508..111429415hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38143908
hg19143908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462315
Supporting Variants
Samples
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971669
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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