A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964415



Internal ID43584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37515491..37603884hg38UCSC Ensembl
chr5:37515593..37603986hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3888394
hg1988394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468079
Supporting Variants
Samples
Known GenesWDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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