A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204411



Internal ID22353263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:114986352..115027775hg38UCSC Ensembl
Outerchr4:115907508..115948931hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3841424
hg1941424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273021, nssv14273019, nssv14273017, nssv14273020, nssv14273018, nssv14273016
SamplesHG00512, NA19238, HG00732, NA19240, HG00513, HG00514
Known GenesNDST4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204411
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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