A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748698



Internal ID21386295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32953095..32954094hg38UCSC Ensembl
chr19:33444001..33445000hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432813
Supporting Variants
SamplesMDQ010
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748698
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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