A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578012



Internal ID21526473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72216123..72216217hg38UCSC Ensembl
chr8:73128358..73128452hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150794
SamplesHG02818
Known GenesLOC392232
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578012
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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