A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621117



Internal ID21569422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127012065..127012065hg38UCSC Ensembl
chr3:126730908..126730908hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381873
hg191873
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17132899
SamplesHG03371
Known GenesPLXNA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621117
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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