A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573948



Internal ID21522358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43085710..43088963hg38UCSC Ensembl
chr5:43085812..43089065hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383254
hg193254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135784
SamplesHG03486
Known GenesLOC100506639
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573948
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