A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424452



Internal ID203443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30897136..30897159hg38UCSC Ensembl
chr13:31471273..31471296hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686623
Samples
Known GenesTEX26-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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