A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642086



Internal ID21590391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121133927..121133927hg38UCSC Ensembl
chr6:121455073..121455073hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17153820
SamplesHG00171
Known GenesTBC1D32
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642086
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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