A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218036



Internal ID22363520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77017972..77067520hg38UCSC Ensembl
Outerchr7:76647289..76696837hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3849549
hg1949549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277818, nssv14277789
SamplesHG00732, HG00733
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218036
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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