A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218136



Internal ID22363583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37380859..37381884hg38UCSC Ensembl
chr17:35737797..35738822hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390130
SamplesNA19239
Known GenesACACA, C17orf78
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218136
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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