A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933504



Internal ID22708817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47718652..47718722hg38UCSC Ensembl
chr19:48221909..48221979hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390213
Samples
Known GenesEHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933504
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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