A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229660



Internal ID22371440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132072956..132083299hg38UCSC Ensembl
Outerchr7:131757715..131768058hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278045, nssv14278047, nssv14278042, nssv14278043, nssv14278048, nssv14278046, nssv14278044, nssv14278041, nssv14278049
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229660
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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