A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198504



Internal ID22348218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7486127..7501238hg38UCSC Ensembl
Outerchr4:7487854..7502965hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3815112
hg1915112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6439n152
Supporting Variantsnssv14274520
SamplesHG00512
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198504
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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