A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621073



Internal ID21569378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242521617..242521617hg38UCSC Ensembl
chr1:242684919..242684919hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063987
SamplesHG00731
Known GenesPLD5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621073
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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