A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504954



Internal ID281745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9819640..9825440hg38UCSC Ensembl
chr12:9972236..9978036hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052848
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504954
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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