A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276708



Internal ID22153976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72149277..72182627hg38UCSC Ensembl
Outerchr6:72858980..72892330hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3833351
hg1933351
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195202
Supporting Variants
SamplesHG00514
Known GenesRIMS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276708
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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