A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553030



Internal ID22421920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38124422..38124422hg38UCSC Ensembl
chr19:38615062..38615062hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393544
SamplesNA19240
Known GenesSIPA1L3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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