A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605988



Internal ID21554293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1293731..1293731hg38UCSC Ensembl
chr1:1229111..1229111hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060402
SamplesHG03683
Known GenesACAP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605988
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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