A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272819



Internal ID22232988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145496517..145522087hg38UCSC Ensembl
Outerchr4:146417669..146443239hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3825571
hg1925571
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199535
Supporting Variants
SamplesHG00733
Known GenesSMAD1, SMAD1-AS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272819
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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