A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214402



Internal ID22361071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2917791..2945426hg38UCSC Ensembl
Outerchr6:2918025..2945660hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278996, nssv14278997
SamplesHG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214402
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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