A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276541



Internal ID22198669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44029245..44052611hg38UCSC Ensembl
Outerchr6:43996982..44020348hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212360
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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