A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276524



Internal ID22139831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43924459..43968317hg38UCSC Ensembl
Outerchr6:43892196..43936054hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382429
hg192429
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223371
Supporting Variants
SamplesHG00513
Known GenesLOC100132354
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276524
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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