A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470560



Internal ID248316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70231275..70231928hg38UCSC Ensembl
chr6:70940978..70941631hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984561
Samples
Known GenesCOL9A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470560
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