A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623531



Internal ID21571836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128465726..128465726hg38UCSC Ensembl
chr3:128184569..128184569hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130251
SamplesHG00512
Known GenesDNAJB8, DNAJB8-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623531
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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