A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205191



Internal ID22353924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7486127..7500709hg38UCSC Ensembl
Outerchr4:7487854..7502436hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3814583
hg1914583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6439n152
Supporting Variantsnssv14273863
SamplesNA19239
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205191
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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