A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278004



Internal ID22119939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:112791195..112804558hg38UCSC Ensembl
Outerchr7:112431250..112444613hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222299
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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