A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222341



Internal ID22366446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5240003..5240713hg38UCSC Ensembl
chr17:5143298..5144008hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380149, nssv14389218, nssv14382843
SamplesHG00731, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222341
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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