A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270412



Internal ID22219939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42785944..42803415hg38UCSC Ensembl
Outerchr3:42827436..42844907hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3817472
hg1917472
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197679
Supporting Variants
SamplesHG00733
Known GenesHIGD1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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