A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5637067



Internal ID21585372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178338588..178338588hg38UCSC Ensembl
chr5:177765589..177765589hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138697
SamplesNA19239
Known GenesCOL23A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5637067
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