A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385361



Internal ID22443231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37033251..37033251hg38UCSC Ensembl
chr13:37607388..37607388hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975392
Supporting Variants
Samples
Known GenesSUPT20H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385361
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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