A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17135300



Internal ID21464393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151740400..151740400hg38UCSC Ensembl
chr3:151458188..151458188hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619275
Supporting Variants
SamplesHG03065
Known GenesAADACL2, MIR548H2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17135300
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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