A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3276112



Internal ID22377791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102676926..102677004hg38UCSC Ensembl
chr14:103143263..103143341hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454361
SamplesHG00733
Known GenesRCOR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3276112
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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