A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280202



Internal ID22185208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155397313..155422025hg38UCSC Ensembl
Outerchr7:155190008..155214720hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213971
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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