A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54n172



Internal ID22814428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234775254..234785253hg38UCSC Ensembl
chr1:234911001..234921000hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3810000
hg1910000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433072, nsv4433070, nsv4433071
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, SMI041, NB11, SMI018, MDQ025
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv54n172
Frequency
Sample Size15
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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