A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276649



Internal ID22270198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150320841..150326955hg38UCSC Ensembl
Outerchr6:150641977..150648091hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386115
hg196115
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198839
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276649
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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