A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226951



Internal ID22369585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:156137974..156167994hg38UCSC Ensembl
Outerchr4:157059126..157089146hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg383414
hg193414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274599, nssv14274600, nssv14274601
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226951
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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