A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400100



Internal ID22285429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30637925..30640873hg38UCSC Ensembl
chr13:31212062..31215010hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382949
hg192949
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192137
Supporting Variants
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)nssv14400100
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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