A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456299



Internal ID234369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80377684..80384812hg38UCSC Ensembl
chr4:81298838..81305966hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg387129
hg197129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953153
Samples
Known GenesC4orf22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456299
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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