A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280245



Internal ID22185213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:886113..944895hg38UCSC Ensembl
Outerchr7:925750..984531hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg384629
hg194629
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227413
Supporting Variants
SamplesHG00731
Known GenesADAP1, GET4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280245
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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