A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201521



Internal ID22350817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61114670..61153572hg38UCSC Ensembl
Outerchr4:61980388..62019290hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3838903
hg1938903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271911, nssv14271909, nssv14271910, nssv14271908
SamplesNA19238, NA19239, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201521
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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