A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226024



Internal ID22368971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1925610..1933024hg38UCSC Ensembl
Outerchr6:1925844..1933258hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275384, nssv14275382, nssv14275383, nssv14275381
SamplesHG00512, NA19238, HG00731, HG00513
Known GenesGMDS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226024
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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