A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277286



Internal ID22154192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54348153..54376859hg38UCSC Ensembl
Outerchr6:54212951..54241657hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3828707
hg1928707
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199113
Supporting Variants
SamplesHG00514
Known GenesTINAG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277286
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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