A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518712



Internal ID20892073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48818120..48828778hg38UCSC Ensembl
chr19:49321377..49332035hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810659
hg1910659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18048853
Samples
Known GenesHSD17B14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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