A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261202



Internal ID22145490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6186048..6204511hg38UCSC Ensembl
Outerchr17:6089368..6107831hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383386
hg193386
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243275
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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