A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472479



Internal ID250185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56130012..56150999hg38UCSC Ensembl
chr6:55994810..56015797hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3820988
hg1920988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982882
Samples
Known GenesCOL21A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472479
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer