A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754329



Internal ID20530189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45904632..45904632hg38UCSC Ensembl
chr6:45872369..45872369hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261141
Samples
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754329
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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