A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913302



Internal ID9616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48486758..48491015hg38UCSC Ensembl
chr2:48713897..48718154hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg384258
hg194258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442668
Supporting Variants
Samples
Known GenesPPP1R21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913302
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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