A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182390



Internal ID22337076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175302712..175302982hg38UCSC Ensembl
chr1:175271848..175272118hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381224
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3182390
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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