A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568328



Internal ID21516675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229880051..229884394hg38UCSC Ensembl
chr1:230015798..230020141hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384344
hg194344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063235
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568328
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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