A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232030



Internal ID22372401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22943634..22954410hg38UCSC Ensembl
Outerchr14:23412843..23423619hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382646
hg192646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258091, nssv14257600, nssv14257601, nssv14258090, nssv14258089, nssv14258092, nssv14258093
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesHAUS4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232030
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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