A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376783



Internal ID22323310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5638472..5638896hg38UCSC Ensembl
chr12:5747638..5748062hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209572
Supporting Variants
SamplesNA19240
Known GenesANO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14376783
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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