A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225983



Internal ID22368945
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272544, nssv14272547, nssv14272578, nssv14272545
SamplesHG00512, HG00733, HG00513, HG00514
Known GenesPAK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225983
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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