A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229649



Internal ID22371433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48774083..48774256hg38UCSC Ensembl
chr17:46851445..46851618hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390871, nssv14380440, nssv14373002
SamplesNA19238, NA19239, NA19240
Known GenesTTLL6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229649
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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