A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274496



Internal ID22314405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42251315..42262317hg38UCSC Ensembl
Outerchr4:42253332..42264334hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3811003
hg1911003
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203384
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274496
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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