A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv33n172



Internal ID22814407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115686866..115690219hg38UCSC Ensembl
chr1:116229487..116232840hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383354
hg193354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432930, nsv4432929
SamplesNB12, NB08, MDQ045, NB10, MDQ010, NB11, MDQ025
Known GenesVANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv33n172
Frequency
Sample Size15
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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