A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606322



Internal ID21554627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187242975..187242975hg38UCSC Ensembl
chr3:186960763..186960763hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg385512
hg195512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130369
SamplesHG01596
Known GenesMASP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606322
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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