A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375596



Internal ID22319503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:130217359..130229504hg38UCSC Ensembl
chr10:132015623..132027768hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3812146
hg1912146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211029
Supporting Variants
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)nssv14375596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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