A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030216



Internal ID21939559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47739761..47739905hg38UCSC Ensembl
chr17:45817127..45817271hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17624759
Samples
Known GenesTBX21
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030216
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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