A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377500



Internal ID22435370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42152650..42152650hg38UCSC Ensembl
chr13:42726786..42726786hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974638
Supporting Variants
Samples
Known GenesDGKH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377500
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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