A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253841



Internal ID22186382
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242905
Supporting Variants
SamplesHG00731
Known GenesMKX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253841
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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