A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278973



Internal ID22199101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160162413..160181874hg38UCSC Ensembl
Outerchr6:160583445..160602906hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381904
hg191904
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210578
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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