A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504645



Internal ID281444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42774085..42781744hg38UCSC Ensembl
chr12:43167887..43175546hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387660
hg197660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055302
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504645
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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