A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279639



Internal ID22125299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:63871889..63885628hg38UCSC Ensembl
Outerchr10:65631649..65645388hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3813740
hg1913740
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222943
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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