A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277122



Internal ID22262784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33603921..33620169hg38UCSC Ensembl
Outerchr6:33571698..33587946hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3816249
hg1916249
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190790
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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