A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242905



Internal ID22375419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27745188..27757967hg38UCSC Ensembl
Outerchr10:28034117..28046896hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253841, nssv14253840, nssv14253839
SamplesHG00512, HG00731, HG00514
Known GenesMKX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242905
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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