A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274604



Internal ID22263000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:158191904..158197348hg38UCSC Ensembl
Outerchr4:159113056..159118500hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg382576
hg192576
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225671
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274604
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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