A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272578



Internal ID22131743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196798055..196837698hg38UCSC Ensembl
Outerchr3:196524926..196564569hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383346
hg193346
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225983
Supporting Variants
SamplesHG00513
Known GenesPAK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272578
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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