A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272079



Internal ID22197887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14393070..14403456hg38UCSC Ensembl
Outerchr3:14434570..14444964hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220011
Supporting Variants
SamplesHG00732
Known GenesSLC6A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272079
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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