A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276277



Internal ID22260989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95206769..95233562hg38UCSC Ensembl
Outerchr5:94542473..94569266hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816180
hg1916180
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220741
Supporting Variants
SamplesNA19238
Known GenesMCTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276277
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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