A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279528



Internal ID22117933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103377169..103449619hg38UCSC Ensembl
Outerchr10:105136926..105209376hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3872451
hg1972451
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229681
Supporting Variants
SamplesHG00512
Known GenesCALHM2, MIR1307, PDCD11, TAF5, USMG5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279528
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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