A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273863



Internal ID22270784
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205191
Supporting Variants
SamplesNA19239
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273863
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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