A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619007



Internal ID21567312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180407553..180407553hg38UCSC Ensembl
chr2:181272280..181272280hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110496
SamplesHG00096
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619007
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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