A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618469



Internal ID21566774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52923161..52923161hg38UCSC Ensembl
chr1:53388833..53388833hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065613
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618469
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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