A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968142



Internal ID46073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61210182..61210330hg38UCSC Ensembl
chr5:60506009..60506157hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460466
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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