A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50n172



Internal ID22814424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224059239..224059876hg38UCSC Ensembl
chr1:224246941..224247578hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433052, nsv4433049, nsv4433050, nsv4433051
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv50n172
Frequency
Sample Size15
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer