A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183753



Internal ID22337788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108190702..108194610hg38UCSC Ensembl
chr1:108733324..108737232hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383909
hg193909
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv362n152
Supporting Variantsnssv14464048
SamplesHG00733
Known GenesSLC25A24
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3183753
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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