A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910643



Internal ID7869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27107716..27109660hg38UCSC Ensembl
chr2:27330584..27332528hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381945
hg191945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442941
Supporting Variants
Samples
Known GenesCGREF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910643
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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