A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15753784



Internal ID21393013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198618871..198695871hg38UCSC Ensembl
chr1:198588001..198665000hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3877001
hg1977000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433020
Supporting Variants
SamplesSMI041
Known GenesPTPRC
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15753784
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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