A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500584



Internal ID277517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48593858..48594332hg38UCSC Ensembl
chr12:48987641..48988115hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056416
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500584
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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