A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465430



Internal ID22217749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:26104517..26104517hg38UCSC Ensembl
chr9:26104515..26104515hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554853
Supporting Variants
SamplesHG00733
Known GenesLOC100506422
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465430
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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