A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482353



Internal ID21139906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67712504..67718093hg38UCSC Ensembl
chr14:68179221..68184810hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg385590
hg195590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18020519
Samples
Known GenesRDH12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482353
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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