A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944858



Internal ID22720329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78066030..78078260hg38UCSC Ensembl
chr13:78640165..78652395hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3812231
hg1912231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380168
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944858
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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