A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276384



Internal ID22270314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1314399..1321954hg38UCSC Ensembl
Outerchr6:1314634..1322189hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg387556
hg197556
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198893
Supporting Variants
SamplesNA19239
Known GenesFOXQ1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276384
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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