A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273047



Internal ID22198055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138547123..138561277hg38UCSC Ensembl
Outerchr4:139468277..139482431hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3814155
hg1914155
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195859
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273047
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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