A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280069



Internal ID22190424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24900933..24906005hg38UCSC Ensembl
Outerchr7:24940552..24945624hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg384344
hg194344
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222617
Supporting Variants
SamplesHG00731
Known GenesOSBPL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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