A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213177



Internal ID22360199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150273077..150276990hg38UCSC Ensembl
Outerchr6:150594213..150598126hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381010
hg191010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279474, nssv14279473
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213177
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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