A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918551



Internal ID13135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103421057..103433964hg38UCSC Ensembl
chr2:104037515..104050422hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3812908
hg1912908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451077
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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