A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942327



Internal ID21362396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183017819..183017819hg38UCSC Ensembl
chr3:182735607..182735607hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190476
SamplesHG002
Known GenesMCCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942327
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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