A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6357071



Internal ID21014624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53639724..53642436hg38UCSC Ensembl
chr3:53673751..53676463hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18101645
Samples
Known GenesCACNA1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6357071
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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