A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv242n172



Internal ID22814616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81411744..81414353hg38UCSC Ensembl
chr14:81878088..81880697hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432149, nsv4432148, nsv4432147
SamplesNB08, MDQ045, NB10, BTQ055, MDQ010, NB11, NB07, SMI018, MDQ025
Known GenesSTON2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv242n172
Frequency
Sample Size15
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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