A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507823



Internal ID284532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112933858..112934417hg38UCSC Ensembl
chr12:113371663..113372222hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690697
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507823
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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