A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280606



Internal ID22207331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:60051519..60053356hg38UCSC Ensembl
Outerchr10:61811277..61813114hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381838
hg191838
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223021
Supporting Variants
SamplesHG00732
Known GenesANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280606
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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