A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271063



Internal ID22120635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17782026..17788724hg38UCSC Ensembl
Outerchr3:17823518..17830216hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386699
hg196699
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193600
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271063
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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