A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958327



Internal ID22733398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13328502..13328502hg38UCSC Ensembl
chr6:13328734..13328734hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418344
Samples
Known GenesTBC1D7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958327
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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