A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281601



Internal ID22126389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76415451..76458656hg38UCSC Ensembl
Outerchr8:77327686..77370891hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3843206
hg1943206
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219640
Supporting Variants
SamplesHG00512
Known GenesLINC01111
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281601
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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