A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15747209



Internal ID21387260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50942226..50942871hg38UCSC Ensembl
chr14:51408944..51409589hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432112
Supporting Variants
SamplesMDQ045
Known GenesPYGL
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15747209
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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