A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748064



Internal ID21392807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234775254..234783253hg38UCSC Ensembl
chr1:234911001..234919000hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433070
Supporting Variants
SamplesSMI041
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748064
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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