A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606996



Internal ID21555301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15592530..15592530hg38UCSC Ensembl
chr3:15634037..15634037hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17124821
SamplesHG00732
Known GenesHACL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606996
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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