A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971652



Internal ID48455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111672689..111998825hg38UCSC Ensembl
chr5:111008386..111334522hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38326137
hg19326137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466567
Supporting Variants
Samples
Known GenesNREP, NREP-AS1, STARD4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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