A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278510



Internal ID22306638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38330233..38373352hg38UCSC Ensembl
Outerchr7:38369834..38412953hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227315
Supporting Variants
SamplesNA19240
Known GenesTRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278510
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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