A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513274



Internal ID289802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31678630..31680358hg38UCSC Ensembl
chr12:31831564..31833292hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381729
hg191729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057175
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513274
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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