A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456708



Internal ID234769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131033996..131038388hg38UCSC Ensembl
chr6:131355136..131359528hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg384393
hg194393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969445
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456708
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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