A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925746



Internal ID17913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230416188..230416339hg38UCSC Ensembl
chr2:231280903..231281054hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440631
Supporting Variants
Samples
Known GenesSP100
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925746
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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