A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275975



Internal ID22303329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139269929..139318612hg38UCSC Ensembl
Outerchr6:139591066..139639749hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3848684
hg1948684
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208615
Supporting Variants
SamplesNA19240
Known GenesTXLNB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275975
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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