A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889789



Internal ID167290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144822587..144830800hg38UCSC Ensembl
chr2:91734958..91742281hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg388214
hg197324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426172
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889789
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002123


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