A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439461



Internal ID217997
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 StatusM
Merged Variants
Supporting Variantsnssv16917821
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)nsv5439461
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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