A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931521



Internal ID22706806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100607526..100607690hg38UCSC Ensembl
chr13:101259780..101259944hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363538
Samples
Known GenesTMTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931521
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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