A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917821



Internal ID12622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131381309..131531618hg38UCSC Ensembl
chr2:132138882..132289191hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38150310
hg19150310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439461
Supporting Variants
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917821
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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