A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226661



Internal ID22369384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30220298..30226873hg38UCSC Ensembl
chr17:28547316..28553891hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386576
hg196576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387996, nssv14379515, nssv14389841
SamplesNA19238, NA19239, NA19240
Known GenesSLC6A4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226661
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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