A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276744



Internal ID22140365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:12128283..12165455hg38UCSC Ensembl
Outerchr6:12128516..12165688hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3837173
hg1937173
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206665
Supporting Variants
SamplesHG00513
Known GenesHIVEP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276744
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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