A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644246



Internal ID21592551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173116752..173116752hg38UCSC Ensembl
chr5:172543755..172543755hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129500
SamplesNA12329
Known GenesCREBRF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644246
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