A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501729



Internal ID278620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61633512..61636464hg38UCSC Ensembl
chr12:62027293..62030245hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382953
hg192953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057748
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501729
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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