A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184325



Internal ID22338092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115686863..115690220hg38UCSC Ensembl
chr1:116229484..116232841hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461286
SamplesHG00733
Known GenesVANGL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3184325
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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