A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984527



Internal ID57070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69868550..69868610hg38UCSC Ensembl
chr6:70578442..70578502hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470578
Supporting Variants
Samples
Known GenesCOL19A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984527
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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