A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219815



Internal ID22364713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155798958..155827806hg38UCSC Ensembl
Outerchr3:155516747..155545595hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271952, nssv14271950, nssv14271951, nssv14271954, nssv14271955, nssv14271953, nssv14271956
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesC3orf33, SLC33A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219815
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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