A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708295



Internal ID131961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75070682..75084682hg38UCSC Ensembl
chr16:75104580..75118580hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524151
Supporting Variants
Samples
Known GenesZNRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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