A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423664



Internal ID202679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122785969..122786020hg38UCSC Ensembl
chr12:123270516..123270567hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690758
Samples
Known GenesCCDC62
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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