A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv380n172



Internal ID22814754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55530417..55530780hg38UCSC Ensembl
chr19:56041784..56042147hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432874, nsv4432873, nsv4432872, nsv4432871
SamplesNB12, SMI034, NB08, BTQ038, BTQ055, NB11, SMI018, NB09
Known GenesSBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv380n172
Frequency
Sample Size15
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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