A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950641



Internal ID34446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70692393..70699385hg38UCSC Ensembl
chr4:71558110..71565102hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg386993
hg196993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470297
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950641
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002186


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