A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3930531



Internal ID21350600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242521617..242521617hg38UCSC Ensembl
chr1:242684919..242684919hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190655
SamplesHG002
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3930531
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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