A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188282



Internal ID22340164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579043..6579178hg38UCSC Ensembl
chr12:6688209..6688344hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448676
SamplesHG00733
Known GenesCHD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188282
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