A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278875



Internal ID22140541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100543180..100556606hg38UCSC Ensembl
Outerchr8:101555408..101568834hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3813427
hg1913427
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220214
Supporting Variants
SamplesHG00513
Known GenesANKRD46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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