A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423878



Internal ID22163040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27282569..27282569hg38UCSC Ensembl
chr3:27324060..27324060hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532028
Supporting Variants
SamplesHG00514
Known GenesNEK10
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)nssv14423878
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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