A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604730



Internal ID21525156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68127780..68127780hg38UCSC Ensembl
chr3:68176930..68176930hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130761
SamplesHG00731
Known GenesFAM19A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604730
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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