A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193638



Internal ID22344066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38257915..38288885hg38UCSC Ensembl
Outerchr4:38259536..38290506hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3830971
hg1930971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274368, nssv14274371, nssv14274369, nssv14274370
SamplesNA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193638
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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