A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213507



Internal ID22360431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:159228570..159240009hg38UCSC Ensembl
Outerchr3:158946359..158957798hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271959, nssv14271958, nssv14271960
SamplesHG00512, NA19238, HG00731
Known GenesIQCJ, IQCJ-SCHIP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213507
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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