A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271005



Internal ID22267599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:74614938..74686955hg38UCSC Ensembl
Outerchr3:74664089..74736106hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3872018
hg1972018
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207579
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271005
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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