A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271661



Internal ID22277447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48477236..48522528hg38UCSC Ensembl
Outerchr3:48518645..48559961hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3845293
hg1941317
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208451
Supporting Variants
SamplesNA19239
Known GenesPFKFB4, SHISA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271661
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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