A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272554



Internal ID22140305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15260191..15275702hg38UCSC Ensembl
Outerchr3:15301698..15317209hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228763
Supporting Variants
SamplesHG00513
Known GenesSH3BP5, SH3BP5-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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