A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919249



Internal ID13612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133430912..133441772hg38UCSC Ensembl
chr2:134188483..134199343hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3810861
hg1910861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442652
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919249
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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