A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604938



Internal ID21548894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113260721..113260721hg38UCSC Ensembl
chr3:112979568..112979568hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137104
SamplesHG00096
Known GenesBOC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604938
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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