A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234338



Internal ID22373002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42165839..42167679hg38UCSC Ensembl
chr5:42165941..42167781hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381841
hg191841
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411815
SamplesNA19240
Known GenesLOC101926960
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234338
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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