A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393544



Internal ID22309821
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 StatusS
Merged Variantsnsv3553030
Supporting Variants
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)nssv14393544
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer