A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555229



Internal ID22424072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:101659580..101659580hg38UCSC Ensembl
chr9:104421862..104421862hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465484
SamplesHG00733
Known GenesGRIN3A
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)nsv3555229
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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