A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457579



Internal ID235619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130389362..130389617hg38UCSC Ensembl
chr6:130710507..130710762hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969702
Samples
Known GenesTMEM200A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457579
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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