A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232224



Internal ID22372447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52488475..52539973hg38UCSC Ensembl
Outerchr13:53062610..53114108hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3813735
hg1913735
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2275n152
Supporting Variantsnssv14257417
SamplesHG00732
Known GenesTPTE2P3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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