A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6370844



Internal ID21028397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50495113..50498148hg38UCSC Ensembl
chr3:50532544..50535579hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383036
hg193036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18102219
Samples
Known GenesCACNA2D2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6370844
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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