A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965751



Internal ID22740686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56216028..56216028hg38UCSC Ensembl
chr5:55511855..55511855hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417180
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965751
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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