A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275637



Internal ID22253734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:130178322..130187822hg38UCSC Ensembl
Outerchr6:130499467..130508967hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg389501
hg199501
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208274
Supporting Variants
SamplesNA19238
Known GenesSAMD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275637
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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