A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221390



Internal ID22365794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2367580..2381834hg38UCSC Ensembl
Outerchr6:2367814..2382068hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279447, nssv14279446, nssv14279448
SamplesHG00731, HG00732, HG00513
Known GenesGMDS-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221390
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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