A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278583



Internal ID22319404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141482495..141503054hg38UCSC Ensembl
Outerchr7:141182295..141202854hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382583
hg192583
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225190
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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