A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448789



Internal ID227048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27334663..27335054hg38UCSC Ensembl
chr2:27557530..27557921hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910661
Samples
Known GenesGTF3C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448789
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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