A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250230



Internal ID22377477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51525253..51525675hg38UCSC Ensembl
chr19:52028507..52028929hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464853
SamplesHG00733
Known GenesSIGLEC6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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