A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615194



Internal ID21563499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42811148..42811148hg38UCSC Ensembl
chr1:43276819..43276819hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065344
SamplesNA19239
Known GenesCCDC23
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615194
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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