A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758787



Internal ID20534647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2401205..2401205hg38UCSC Ensembl
chr1:2332644..2332644hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265085
Samples
Known GenesRER1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758787
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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