A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528666



Internal ID22398055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63747990..63748119hg38UCSC Ensembl
chr17:61825350..61825479hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379917, nssv14390512, nssv14387602
SamplesNA19238, NA19239, NA19240
Known GenesCCDC47
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528666
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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