A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221502



Internal ID22365872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39150862..39281918hg38UCSC Ensembl
chr9:39150859..39281915hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38131057
hg19131057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14347242, nssv14347243, nssv14347236, nssv14347238, nssv14347241, nssv14347239, nssv14347240, nssv14347237, nssv14347244
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCNTNAP3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221502
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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