A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374679



Internal ID22600348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:54117822..54125718hg38UCSC Ensembl
chr13:54691957..54699853hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg387897
hg197897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936591
Supporting Variants
Samples
Known GenesLINC00458
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374679
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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