A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5653168



Internal ID21601473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123908064..123908064hg38UCSC Ensembl
chr12:124392611..124392611hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077296, nssv17077297
SamplesHG00096, HG00731
Known GenesDNAH10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5653168
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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