A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280268



Internal ID22155213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24392630..24428715hg38UCSC Ensembl
Outerchr7:24432249..24468334hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381863
hg191863
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225341
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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