A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471998



Internal ID249719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70133389..70138826hg38UCSC Ensembl
chr6:70843281..70848718hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg385438
hg195438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984554
Samples
Known GenesCOL19A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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