A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643660



Internal ID21591965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69118299..69118299hg38UCSC Ensembl
chr5:68414126..68414126hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139826
SamplesHG00512
Known GenesSLC30A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643660
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