A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432112



Internal ID21394114
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 StatusM
Merged Variantsdgv236n172
Supporting Variantsnssv15747209
SamplesMDQ045
Known GenesPYGL
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432112
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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