A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278043



Internal ID22154449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132072956..132083299hg38UCSC Ensembl
Outerchr7:131757715..131768058hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229660
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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