A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201724



Internal ID22350985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126153601..126196249hg38UCSC Ensembl
Outerchr4:127074756..127117404hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3842649
hg1942649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272813
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201724
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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