A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567314



Internal ID21515649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123959737..123959828hg38UCSC Ensembl
chr3:123678584..123678675hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127750
SamplesHG00512
Known GenesCCDC14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567314
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