A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918784



Internal ID13297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113876179..113876230hg38UCSC Ensembl
chr2:114633756..114633807hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444511
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918784
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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