A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270860



Internal ID22271734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152591838..152598733hg38UCSC Ensembl
Outerchr3:152309627..152316522hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg386896
hg196896
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204560
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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