A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904447



Internal ID22679624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121266510..121272706hg38UCSC Ensembl
chr6:121587656..121593852hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386197
hg196197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420651
Samples
Known GenesTBC1D32
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904447
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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