A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845525



Internal ID22029168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97284308..97284308hg38UCSC Ensembl
chr13:97936562..97936562hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249518
Supporting Variants
Samples
Known GenesMBNL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845525
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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