A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273127



Internal ID22198066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182827329..182850268hg38UCSC Ensembl
Outerchr4:183748482..183771421hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385117
hg195117
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215967
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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