A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510061



Internal ID286691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31049433..31050180hg38UCSC Ensembl
chr12:31202367..31203114hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055524
Samples
Known GenesDDX11-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510061
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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