A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964969



Internal ID22739904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121133927..121133927hg38UCSC Ensembl
chr6:121455073..121455073hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426523
Samples
Known GenesTBC1D32
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964969
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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