A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281547



Internal ID22131673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:67951700..68053894hg38UCSC Ensembl
Outerchr10:69711457..69813651hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38102195
hg19102195
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210447
Supporting Variants
SamplesHG00513
Known GenesHERC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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