A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275482



Internal ID22270483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26022062..26056331hg38UCSC Ensembl
Outerchr6:26022290..26056559hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg382104
hg192104
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225658
Supporting Variants
SamplesNA19239
Known GenesHIST1H1C, HIST1H2AB, HIST1H2BB, HIST1H3B, HIST1H3C, HIST1H4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275482
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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