A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509261



Internal ID285922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102304113..102316754hg38UCSC Ensembl
chr12:102697891..102710532hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3812642
hg1912642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690408
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509261
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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