A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214729



Internal ID22361296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150268035..150275461hg38UCSC Ensembl
Outerchr6:150589171..150596597hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38869
hg19869
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279410, nssv14279409
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214729
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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