A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220660



Internal ID22365295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:57020113..57092983hg38UCSC Ensembl
Outerchr7:57087820..57160690hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg385834
hg195834
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279627, nssv14279630, nssv14279629, nssv14279625, nssv14279626, nssv14279628
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220660
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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