A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572598



Internal ID21520989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796864..42799317hg38UCSC Ensembl
chr3:42838356..42840809hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135237
SamplesHG00731
Known GenesHIGD1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572598
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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