A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277895



Internal ID22193415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2356548..2385587hg38UCSC Ensembl
Outerchr7:2396183..2425222hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212005
Supporting Variants
SamplesHG00731
Known GenesEIF3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277895
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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