A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271043



Internal ID22151969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99172352..99208865hg38UCSC Ensembl
Outerchr3:98891196..98927709hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3836514
hg1936514
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194456
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271043
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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