A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030500



Internal ID21939843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82254328..82254426hg38UCSC Ensembl
chr17:80212204..80212302hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17624924
Samples
Known GenesCSNK1D
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030500
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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