A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498588



Internal ID275578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15256609..15264661hg38UCSC Ensembl
chr12:15409543..15417595hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg388053
hg198053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054294
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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