A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501614



Internal ID278508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88233994..88234847hg38UCSC Ensembl
chr12:88627771..88628624hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684014
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501614
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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