A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416206



Internal ID195443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28486642..28486686hg38UCSC Ensembl
chr12:28639575..28639619hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055174
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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