A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444530



Internal ID222901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189104873..189105653hg38UCSC Ensembl
chr2:189969599..189970379hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923223
Samples
Known GenesCOL5A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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