A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280271



Internal ID22126569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47495988..47533363hg38UCSC Ensembl
Outerchr7:47535586..47572961hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225542
Supporting Variants
SamplesHG00512
Known GenesTNS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280271
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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