A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420056



Internal ID199172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37033968..37034007hg38UCSC Ensembl
chr13:37608105..37608144hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686930
Samples
Known GenesSUPT20H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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