A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554001



Internal ID327197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12743382..12743433hg38UCSC Ensembl
chr12:12896316..12896367hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053215
Samples
Known GenesAPOLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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