A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656748



Internal ID21605053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2341125..2341125hg38UCSC Ensembl
chr19:2341123..2341123hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17103873
SamplesNA19650
Known GenesSPPL2B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656748
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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