A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616224



Internal ID21564529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17114628..17114628hg38UCSC Ensembl
chr1:17441123..17441123hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061330
SamplesNA19239
Known GenesPADI2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616224
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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