A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751257



Internal ID20527117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42233460..42233460hg38UCSC Ensembl
chr6:42201198..42201198hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274628
Samples
Known GenesTRERF1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751257
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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