A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274087



Internal ID22153049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70040968..70114851hg38UCSC Ensembl
Outerchr4:70906685..70980568hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg384374
hg194374
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229346
Supporting Variants
SamplesHG00514
Known GenesCSN1S2AP, HTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274087
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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