A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218643



Internal ID22363925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3959025..3979293hg38UCSC Ensembl
Outerchr7:3998657..4018925hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg382423
hg192423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279593, nssv14279591, nssv14279590, nssv14279596, nssv14279594, nssv14279592, nssv14279595
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSDK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218643
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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