A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217746



Internal ID22363307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51936545..51936632hg38UCSC Ensembl
chr17:50013905..50013992hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388751, nssv14383832, nssv14381607
SamplesHG00512, HG00731, HG00514
Known GenesCA10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217746
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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