A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192137



Internal ID22342760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30637925..30640873hg38UCSC Ensembl
chr13:31212062..31215010hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382949
hg192949
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400100
SamplesNA19240
Known GenesUSPL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192137
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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