A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15746329



Internal ID21392469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234776254..234785253hg38UCSC Ensembl
chr1:234912001..234921000hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433072
Supporting Variants
SamplesSMI034
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15746329
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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