A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612042



Internal ID21560347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58963461..58963461hg38UCSC Ensembl
chr1:59429133..59429133hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg383125
hg193125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065484
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612042
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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