A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425923



Internal ID204874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28285663..28285663hg38UCSC Ensembl
chr12:28438596..28438596hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055145
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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