A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462315



Internal ID22229450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137889081..137889081hg38UCSC Ensembl
chr9:140783533..140783533hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547216
Supporting Variants
SamplesHG00733
Known GenesCACNA1B
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)nssv14462315
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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