A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203583



Internal ID22352565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68157017..68225908hg38UCSC Ensembl
Outerchr4:69022735..69091626hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3868892
hg1968892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271933, nssv14271927, nssv14271932, nssv14271929, nssv14271930, nssv14271931, nssv14271925, nssv14271928, nssv14271926
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFTLP10, TMPRSS11BNL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203583
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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