A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278903



Internal ID22277968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64268852..64291061hg38UCSC Ensembl
Outerchr6:64978745..65000954hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225595
Supporting Variants
SamplesNA19239
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278903
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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