A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212557



Internal ID22359765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:136574141..136584234hg38UCSC Ensembl
Outerchr7:136258889..136268982hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38905
hg19905
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280088, nssv14280087
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212557
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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