A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905085



Internal ID22680267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80113718..80117985hg38UCSC Ensembl
chr5:79409541..79413808hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384268
hg194268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415662
Samples
Known GenesSERINC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905085
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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