A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910633



Internal ID7862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26989947..26990999hg38UCSC Ensembl
chr2:27212815..27213867hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442610
Supporting Variants
Samples
Known GenesMAPRE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910633
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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