A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271292



Internal ID22214387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193152717..193168963hg38UCSC Ensembl
Outerchr3:192870506..192886752hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3816247
hg1916247
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207250
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271292
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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