A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275620



Internal ID22118635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125376982..125395942hg38UCSC Ensembl
Outerchr6:125698128..125717088hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3818961
hg1918961
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201693
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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