A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402297



Internal ID181667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116358349..116358400hg38UCSC Ensembl
chr10:118117861..118117912hg19UCSC Ensembl
Cytoband10q25.3
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 Variantsnssv17040671
Samples
Known GenesCCDC172
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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