A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540345



Internal ID22409489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998492..9998492hg38UCSC Ensembl
chr2:10138620..10138620hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420491
SamplesHG00514
Known GenesGRHL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540345
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