A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427596



Internal ID22485466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176995540..176998465hg38UCSC Ensembl
chr5:176422541..176425466hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382926
hg192926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888029
Supporting Variants
Samples
Known GenesUIMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427596
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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