A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395953



Internal ID22298801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58830532..58830532hg38UCSC Ensembl
chr20:57405587..57405587hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3556862
Supporting Variants
SamplesNA19240
Known GenesGNAS-AS1
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)nssv14395953
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