A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578844



Internal ID21527317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114110417..114110484hg38UCSC Ensembl
chr2:114867994..114868061hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108082
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578844
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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