A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381256



Internal ID22439126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29130968..29134045hg38UCSC Ensembl
chr13:29705105..29708182hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383078
hg193078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942740
Supporting Variants
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381256
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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