A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224868



Internal ID22368174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:14515402..14541027hg38UCSC Ensembl
Outerchr6:14515633..14541258hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278345, nssv14278348, nssv14278346, nssv14278347
SamplesHG00512, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224868
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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