A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748404



Internal ID21392757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21275689..21450688hg38UCSC Ensembl
chr17:21179001..21354000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175000
hg19175000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432482
Supporting Variants
SamplesSMI041
Known GenesKCNJ12, KCNJ18, MAP2K3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748404
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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