A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279972



Internal ID22199278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:8261764..8300709hg38UCSC Ensembl
Outerchr10:8303727..8342672hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3838946
hg1938946
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224016
Supporting Variants
SamplesHG00732
Known GenesLINC00708
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279972
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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