A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271610



Internal ID22123223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152878914..152909300hg38UCSC Ensembl
Outerchr3:152596703..152627089hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211934
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271610
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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