A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888350



Internal ID22663355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57127295..57127347hg38UCSC Ensembl
chr3:57161323..57161375hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424701
Samples
Known GenesIL17RD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888350
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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