A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278480



Internal ID22259302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:23482217..23530976hg38UCSC Ensembl
Outerchr7:23521836..23570595hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382661
hg192661
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223093
Supporting Variants
SamplesNA19238
Known GenesRPS2P32, TRA2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278480
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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