A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484229



Internal ID261647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82048232..82054534hg38UCSC Ensembl
chr7:81677548..81683850hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386303
hg196303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999184
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484229
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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