A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188925



Internal ID22340510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423675..88423832hg38UCSC Ensembl
chr14:88890019..88890176hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2707n152
Supporting Variantsnssv14404516, nssv14465513, nssv14430448
SamplesNA19240, HG00733, HG00514
Known GenesSPATA7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188925
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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