A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410955



Internal ID22316254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171403978..171404199hg38UCSC Ensembl
chr5:170830982..170831203hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272785
Supporting Variants
SamplesNA19240
Known GenesNPM1
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)nssv14410955
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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