A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641602



Internal ID21589907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9426431..9426431hg38UCSC Ensembl
chr5:9426543..9426543hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17145019
SamplesHG00864
Known GenesSEMA5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641602
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer