A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278568



Internal ID22184237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138600814..138620494hg38UCSC Ensembl
Outerchr7:138285559..138305239hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226928
Supporting Variants
SamplesHG00731
Known GenesSVOPL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278568
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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