A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262936



Internal ID22252976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:50365337..50393157hg38UCSC Ensembl
Outerchr1:50831009..50858829hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215727
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262936
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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