A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277936



Internal ID22226075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99200358..99224312hg38UCSC Ensembl
Outerchr7:98797981..98821935hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385786
hg195786
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215991
Supporting Variants
SamplesHG00733
Known GenesKPNA7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277936
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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