A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6031118



Internal ID21940461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21399778..21684307hg38UCSC Ensembl
chr17:21303090..21566608hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38284530
hg19263519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17620398
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6031118
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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