A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6085249



Internal ID21994482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29431595..29431595hg38UCSC Ensembl
chr17:27758613..27758613hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17636061
Samples
Known GenesTAOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6085249
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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