A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278018



Internal ID22198952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128790652..128817725hg38UCSC Ensembl
Outerchr7:128430706..128457779hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217764
Supporting Variants
SamplesHG00732
Known GenesCCDC136
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278018
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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