A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213971



Internal ID22360753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155397313..155422025hg38UCSC Ensembl
Outerchr7:155190008..155214720hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280205, nssv14280202, nssv14280201, nssv14280204, nssv14280203
SamplesNA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213971
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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