A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278337



Internal ID22277925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2675024..2703902hg38UCSC Ensembl
Outerchr6:2675258..2704136hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216909
Supporting Variants
SamplesNA19239
Known GenesMYLK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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