A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275567



Internal ID22377764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26784942..26785019hg38UCSC Ensembl
chr12:26937875..26937952hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1775n152
Supporting Variantsnssv14420313
SamplesHG00514
Known GenesITPR2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3275567
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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