A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211273



Internal ID22358884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36027406..36028985hg38UCSC Ensembl
chr18:33607369..33608948hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283394, nssv14283392, nssv14283387, nssv14283391, nssv14283395, nssv14283393, nssv14283389, nssv14283390, nssv14283388
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRPRD1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211273
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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