A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211559



Internal ID22359081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37729952..37730015hg38UCSC Ensembl
chr17:36089943..36090006hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386870, nssv14389447, nssv14384788
SamplesHG00731, HG00732, HG00733
Known GenesHNF1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211559
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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