A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271978



Internal ID22268497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172686662..172696439hg38UCSC Ensembl
Outerchr3:172404452..172414229hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg383127
hg193127
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227682
Supporting Variants
SamplesNA19238
Known GenesNCEH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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