A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236968



Internal ID22373749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38803747..38806841hg38UCSC Ensembl
chr12:39197549..39200643hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383095
hg193095
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448216, nssv14422399
SamplesHG00733, HG00514
Known GenesCPNE8
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)nsv3236968
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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