A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888462



Internal ID22663468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56121599..56123843hg38UCSC Ensembl
chr5:55417426..55419670hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410611
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888462
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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