A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752372



Internal ID20528232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3146397..3146397hg38UCSC Ensembl
chr6:3146631..3146631hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283502
Samples
Known GenesBPHL
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752372
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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