A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442392



Internal ID220819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174903967..174909348hg38UCSC Ensembl
chr2:175768695..175774076hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385382
hg195382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922323
Samples
Known GenesCHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442392
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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