A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454494



Internal ID232592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71016744..71016816hg38UCSC Ensembl
chr4:71882461..71882533hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952104
Samples
Known GenesDCK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454494
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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