A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6521172



Internal ID20894533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48655599..48709839hg38UCSC Ensembl
chr19:49158856..49213096hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3854241
hg1954241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18048419
Samples
Known GenesFUT2, NTN5, SEC1P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6521172
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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