A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272545



Internal ID22152512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196798055..196837698hg38UCSC Ensembl
Outerchr3:196524926..196564569hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384542
hg194542
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225983
Supporting Variants
SamplesHG00514
Known GenesPAK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272545
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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