A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979738



Internal ID53871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179616019..179616111hg38UCSC Ensembl
chr5:179043020..179043112hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468873
Supporting Variants
Samples
Known GenesHNRNPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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