A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3277643



Internal ID22377867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78096994..78097267hg38UCSC Ensembl
chr5:77392818..77393091hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456093
SamplesHG00733
Known GenesAP3B1
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)nsv3277643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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