A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276077



Internal ID22121457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170632773..170684783hg38UCSC Ensembl
Outerchr6:170941861..170993871hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3852011
hg1952011
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209266
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276077
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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