A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280237



Internal ID22298070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:78659230..78685489hg38UCSC Ensembl
Outerchr7:78288546..78314805hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383747
hg193747
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210398
Supporting Variants
SamplesNA19240
Known GenesMAGI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280237
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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