A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543747



Internal ID22412796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97482677..97482677hg38UCSC Ensembl
chr12:97876455..97876455hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443639
SamplesHG00733
Known GenesRMST
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543747
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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