A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345853



Internal ID21003406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204713358..204721051hg38UCSC Ensembl
chr2:205578081..205585774hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387694
hg197694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082286
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345853
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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