A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv236n172



Internal ID22814610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50942184..50942871hg38UCSC Ensembl
chr14:51408902..51409589hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432111, nsv4432112
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known GenesPYGL
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv236n172
Frequency
Sample Size15
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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