A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496867



Internal ID273933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67600348..67600840hg38UCSC Ensembl
chr12:67994128..67994620hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688784
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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