A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460492



Internal ID22518375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29197673..29200179hg38UCSC Ensembl
chr13:29771810..29774316hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5856245
Supporting Variants
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460492
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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