A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627548



Internal ID21575853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7864812..7864812hg38UCSC Ensembl
chr5:7864925..7864925hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147448
SamplesNA19238
Known GenesFASTKD3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627548
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