A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223611



Internal ID22367324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9478805..9587527hg38UCSC Ensembl
chr12:9631401..9740123hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38108723
hg19108723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1725n152
Supporting Variantsnssv14393925, nssv14447984
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223611
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