A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv679n172



Internal ID22815053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18401766..18402636hg38UCSC Ensembl
chr6:18401997..18402867hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38871
hg19871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434880, nsv4434881
SamplesSMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB07, SMI018, MDQ025, NB09
Known GenesRNF144B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv679n172
Frequency
Sample Size15
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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