A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612751



Internal ID21561056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219439959..219439959hg38UCSC Ensembl
chr1:219613301..219613301hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062724
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612751
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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