A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422886



Internal ID22161623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8987642..8987642hg38UCSC Ensembl
chr3:9029326..9029326hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538781
Supporting Variants
SamplesHG00514
Known GenesSRGAP3
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)nssv14422886
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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