A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404642



Internal ID22313104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60366802..60366929hg38UCSC Ensembl
chr15:60659001..60659128hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3276615
Supporting Variants
SamplesNA19240
Known GenesANXA2
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)nssv14404642
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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