A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609778



Internal ID21558083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152471408..152471408hg38UCSC Ensembl
chr1:152443884..152443884hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386071
hg196071
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060648
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609778
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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