A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708821



Internal ID132487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89358682..89598682hg38UCSC Ensembl
chr16:89425090..89665090hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38240001
hg19240001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145538
Supporting Variants
Samples
Known GenesANKRD11, CPNE7, RPL13, SNORD68, SPG7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


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