A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv362n152



Internal ID22816065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108190693..108194612hg38UCSC Ensembl
chr1:108733315..108737234hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383920
hg193920
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3173641, nsv3183753
SamplesHG00733, HG00514
Known GenesSLC25A24
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv362n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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