A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275985



Internal ID22153740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13207726..13222444hg38UCSC Ensembl
Outerchr10:13249726..13264444hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3814719
hg1914719
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217955
Supporting Variants
SamplesHG00514
Known GenesMCM10, UCMA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275985
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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