A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272979



Internal ID22262481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:100222933..100259314hg38UCSC Ensembl
Outerchr4:101144090..101180471hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3836382
hg1936382
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202666
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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