A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048109



Internal ID21957342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45931953..45932560hg38UCSC Ensembl
chr21:47351867..47352474hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17646830
Samples
Known GenesPCBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048109
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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