A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936600



Internal ID22711956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16443251..16450773hg38UCSC Ensembl
chr19:16554062..16561584hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387523
hg197523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398075
Samples
Known GenesEPS15L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936600
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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