A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430260



Internal ID22172314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43014865..43014962hg38UCSC Ensembl
chr15:43307063..43307160hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213595
Supporting Variants
SamplesHG00514
Known GenesUBR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430260
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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