A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241752



Internal ID22375058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143209081..143250012hg38UCSC Ensembl
Outerchr8:144290485..144332182hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384833
hg194833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9426n152
Supporting Variantsnssv14279913, nssv14279912, nssv14279911, nssv14279914, nssv14279915, nssv14279910
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733
Known GenesGPIHBP1, ZFP41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241752
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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