A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624371



Internal ID21572676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172960875..172960875hg38UCSC Ensembl
chr3:172678665..172678665hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17122846
SamplesHG00512
Known GenesSPATA16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624371
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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