A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572282



Internal ID21520669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628722..130634263hg38UCSC Ensembl
chr3:130347566..130353107hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385542
hg195542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125679
SamplesHG00731
Known GenesCOL6A6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572282
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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