A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279523



Internal ID22140419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75440347..75442573hg38UCSC Ensembl
Outerchr7:75069626..75071847hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382054
hg192054
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213119
Supporting Variants
SamplesHG00513
Known GenesPOM121C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279523
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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